A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2663615



Internal ID9583034
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:100426593..100430799hg38UCSC Ensembl
Outerchr7:100426222..100431169hg38UCSC Ensembl
Innerchr7:100024216..100028422hg19UCSC Ensembl
Outerchr7:100023845..100028792hg19UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg384948
hg194948
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1226e199
Supporting Variantsessv6063645, essv6545442, essv6224552, essv6133961, essv5819249, essv6451217, essv6332413, essv6514268, essv5424970, essv6514921, essv6275075, essv6195851, essv5930257, essv5780596, essv5602839, essv6221947, essv6439296, essv6159098, essv6527178, essv6014769, essv6319813, essv5677685, essv5397095, essv5690369, essv6332186, essv5723545, essv5686511, essv5652927, essv6527648, essv6374114, essv5676402, essv5741138, essv6154697, essv6323673, essv6183766, essv6245363, essv6530945, essv6347043, essv5493850, essv5727486, essv5721311, essv6022725, essv5614129, essv6047054, essv6324058, essv6079400, essv5500125, essv6425367, essv5929193, essv6588177, essv5561807, essv6279817, essv6193369, essv6418155, essv6568722, essv6002987, essv5832097, essv5802527, essv6352636, essv6001121, essv5794990, essv6269234
SamplesHG00626, HG00403, HG00542, HG00536, HG00608, HG00524, HG00699, HG00449, HG00654, HG00663, HG00589, HG00501, HG00702, HG00634, HG00610, HG00537, HG00590, HG00512, HG00683, HG00705, HG00427, HG00419, HG00464, HG00543, HG00629, HG00443, HG00596, HG00557, HG00428, HG00653, HG00577, HG00475, HG00436, HG00556, HG00533, HG00619, HG00708, HG00635, HG00690, HG00404, HG00531, HG00479, HG00684, HG00613, HG00525, HG00704, HG00611, HG00476, HG00625, HG00580, HG00473, HG00662, HG00418, HG00620, HG00672, HG00614, HG00513, HG00478, HG00656, HG00595, HG00472, HG00437
Known GenesMEPCE, ZCWPW1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2663615
Frequency
Sample Size1151
Observed Gain0
Observed Loss62
Observed Complex0
Frequencyn/a


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