A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2673611



Internal ID9593030
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:49966577..49968962hg38UCSC Ensembl
chrX:49731187..49733575hg19UCSC Ensembl
CytobandXp11.23
Allele length
AssemblyAllele length
hg382386
hg192389
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6360916, essv5741515, essv5642807, essv6303082, essv5661748, essv6130336, essv5599372, essv5506023, essv6126062, essv6520981, essv5849072, essv6057408, essv5782051, essv6391856, essv6112284, essv5881870, essv5995062, essv5818674, essv5773648, essv6220470, essv6506719, essv6542837, essv6223874, essv6102496, essv6259245, essv6441151, essv6486893, essv5452140, essv5641610, essv5474278, essv5405409, essv6404632, essv5925690, essv5545330, essv5801093, essv6115983, essv5767076, essv5455498, essv6021254, essv5552027, essv5478363, essv6564561, essv6080689, essv6439418, essv6548624, essv6451615, essv5571962, essv5684659, essv6020608, essv6494577, essv6349667, essv5627813, essv6544290, essv6571328, essv5520094, essv5729090, essv6587310, essv5421519, essv6427564, essv6246460, essv6403241, essv6036300, essv5840272, essv6050918, essv6332411, essv5528232, essv5877913, essv5529670, essv5417213, essv5577670, essv5625106, essv6309414, essv6320277, essv6487246, essv6330319, essv5487256, essv6144581, essv6017725, essv6298856, essv5807318, essv5985646, essv6056975, essv5462137, essv6089706, essv5601067, essv5970265, essv6479102, essv5816341, essv5434401, essv6287109, essv5512857, essv5946506, essv6152993, essv6395434, essv5705850, essv5969495, essv5707958, essv5421014, essv6056863, essv6232697, essv6372272, essv5950038, essv5498361, essv6012347, essv5788368, essv6277987, essv6081836, essv5629101, essv5564208, essv5995003, essv5791865, essv5597615, essv6074134, essv6093935, essv6422405, essv6444781, essv5925668, essv5635753, essv5785671, essv6139119, essv6054008, essv6256205, essv6571916, essv5601594, essv6191700, essv5513031, essv6199923, essv6590177, essv6484993, essv6464503, essv6278376, essv5443153, essv6525748, essv6047328, essv6343213, essv5865762, essv6455000, essv6487380, essv6025031, essv5622495, essv5444670, essv5498435, essv6316243, essv5868192, essv5440406, essv6226456, essv6065144, essv5461157, essv5697350
SamplesNA19394, NA18502, NA19701, NA19397, NA18924, NA19909, NA19466, NA19204, NA18861, NA18508, NA19399, NA19914, HG01052, NA18980, HG01079, NA19704, NA18507, NA20294, NA19393, NA19377, HG00737, NA19190, NA19098, NA18870, NA19920, NA19446, NA19396, NA19381, NA19171, NA18550, NA18519, HG01366, HG01070, NA18489, NA19678, HG01167, NA18923, NA18942, NA18916, NA18498, NA19681, NA20336, NA19904, NA18874, HG01170, NA18868, NA19917, NA19137, NA20340, NA19371, NA19238, NA19235, NA19172, NA19471, HG01176, HG01440, NA19901, NA18520, NA19239, NA19209, NA19456, NA19445, NA20127, NA18908, NA19985, NA18867, NA19921, NA19451, NA19200, NA19908, NA19437, HG01171, NA19403, NA19462, NA18933, NA19391, NA19236, NA18910, NA18871, NA20344, HG00740, NA18907, NA19114, NA18499, NA18856, NA19453, NA18912, NA18853, HG01497, NA19099, NA19338, NA19225, NA18523, NA19469, NA18570, NA19625, HG01107, NA18945, NA19436, HG00124, NA19440, NA18909, NA11881, NA19321, NA19108, NA19256, NA19147, NA18517, NA20276, NA19712, NA19434, NA19473, NA19444, NA19240, NA19439, NA19470, NA18943, HG01108, HG01342, NA19818, NA19376, NA19398, NA06994, NA19438, NA12749, NA20334, NA19713, NA19474, NA19093, NA19102, NA18873, NA19116, NA19213, NA19900, NA19430, NA18505, NA19129, NA18488, HG01082, NA19316, NA18968, NA12006, NA19463, NA18511, NA18522, NA19429, NA18487, HG01061, NA12776
Known GenesCLCN5
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2673611
Frequency
Sample Size1151
Observed Gain0
Observed Loss149
Observed Complex0
Frequencyn/a


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