A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2657377



Internal ID9576796
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:155641695..155958434hg38UCSC Ensembl
chrX:154871356..155188099hg19UCSC Ensembl
CytobandXq28
Allele length
AssemblyAllele length
hg38316740
hg19316744
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5840267, essv5634048, essv6580591, essv5569119, essv6305178, essv6520391, essv6441442, essv6320466, essv6005209, essv5633303, essv5960787, essv5423138, essv5475271, essv5560618, essv6067001, essv6149606, essv5724818, essv5596033, essv5842982, essv6104534, essv5879491, essv5977204, essv5682450, essv5710392, essv5886120, essv5754049, essv5794313, essv5588425, essv5801538, essv5659911, essv6202690, essv6138993, essv6472693, essv6291377, essv5988864, essv5503110, essv6563936, essv6014717, essv6239949, essv5911937, essv6400711, essv6318558, essv6524115, essv5448811, essv5563603, essv6559693, essv5685636, essv6548106, essv6484138, essv5790160, essv6530904, essv5985147, essv5736514, essv6243870
SamplesHG00542, HG00442, HG00361, HG01389, HG01374, NA18596, NA18606, NA18616, HG01140, HG00138, NA19076, HG01350, HG00589, HG00251, NA18595, HG00689, HG00448, HG01365, HG01124, HG01353, HG01136, HG00154, NA18544, NA18613, NA19077, HG00190, HG00653, HG00436, NA18637, HG00500, HG00619, HG00692, NA18548, NA19461, HG00651, HG00613, HG00704, NA18536, HG00246, NA20534, NA18543, NA19072, HG00580, NA19835, HG00418, NA18610, NA19078, HG00478, HG00421, HG00656, NA18636, HG00280, HG01082, NA18549
Known GenesSPRY3, VAMP7
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2657377
Frequency
Sample Size1151
Observed Gain0
Observed Loss54
Observed Complex0
Frequencyn/a


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