A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2656576



Internal ID9575995
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:91758317..91819923hg38UCSC Ensembl
OuterchrX:91757946..91820293hg38UCSC Ensembl
InnerchrX:91013316..91074922hg19UCSC Ensembl
OuterchrX:91012945..91075292hg19UCSC Ensembl
CytobandXq21.31
Allele length
AssemblyAllele length
hg3862348
hg1962348
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5614067, essv5686646, essv5466711, essv6225566, essv6021117, essv5859173, essv6054153, essv5890991, essv6165928, essv6229630, essv5431349, essv6088074, essv5999328, essv6033445, essv5792248, essv6494011, essv6454107, essv5617454, essv6185706, essv5440286, essv6112785, essv5619206, essv5606940, essv6330751, essv5952302, essv6449408, essv6108463, essv5601515, essv5462880, essv6149380, essv6281768, essv6579434, essv5883269, essv5620544, essv5508544, essv5909466, essv6153332, essv6162591, essv6516498, essv5447065, essv6049447, essv6463124, essv5932405, essv6297072, essv6226322, essv5548218, essv6017574, essv6137964, essv6251973, essv6424219, essv5822784, essv5737109, essv5738162, essv6456716, essv6190663, essv5866611, essv6015105, essv5667531, essv6588359, essv6168026, essv6115890, essv6466156
SamplesHG00593, HG00626, HG00403, HG00650, HG00542, HG00442, HG00592, HG00536, HG00608, HG00671, HG00559, HG00524, HG00566, HG00589, HG00702, HG00689, HG00448, HG00634, HG00610, HG00590, HG00512, HG00683, HG00427, HG00530, HG00560, HG00629, HG00596, HG00557, HG00653, HG00577, HG00701, HG00475, HG00436, HG00556, HG00533, HG00583, HG00500, HG00619, HG00692, HG00635, HG00651, HG00613, HG00704, HG00463, HG00611, HG00625, HG00565, HG00580, HG00607, HG00662, HG00418, HG00620, HG00707, HG00672, HG00614, HG00478, HG00421, HG00656, HG00698, HG00595, HG00472, HG00628
Known GenesPCDH11X
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2656576
Frequency
Sample Size1151
Observed Gain0
Observed Loss62
Observed Complex0
Frequencyn/a


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