A curated catalogue of human genomic structural variation

Variant Details

Variant: esv2677971

Internal ID9597390
Location Information
TypeCoordinatesAssemblyOther Links
chr7:146602875..146605550hg38UCSC Ensembl
chr7:146299967..146302642hg19UCSC Ensembl
Allele length
AssemblyAllele length
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5791995, essv5760093, essv5845445, essv5938806, essv5497650, essv6457998, essv6157678, essv5855110, essv6449950, essv6583819, essv5988444, essv5864454, essv5623975, essv5552890, essv5917156, essv6393211, essv6260817, essv6018074, essv5918477, essv6499642, essv5447387, essv6373904, essv6380164, essv5400866, essv6317136, essv5604505, essv6583436, essv6256558, essv6318964, essv6142132, essv5935347, essv6205104, essv5798176, essv5878848, essv6398713, essv6484732, essv6138354, essv6540058, essv6208685, essv6521465, essv6085034, essv5873981, essv5974795, essv5918532, essv6147725
SamplesHG00152, HG00537, HG00619, HG00171, NA20816, HG01174, HG00173, HG00683, NA07051, NA19678, NA19701, HG00319, NA20803, HG00188, NA18626, HG00321, HG00583, NA19917, NA19675, NA18622, NA07357, HG01048, NA19429, HG00419, NA11894, HG00264, NA19457, HG00133, NA19377, HG00282, NA11892, HG01080, HG00512, HG00534, NA20534, HG00443, HG00580, HG00118, NA19717, HG00367, NA18532, HG01374, NA19381, NA20806, NA19448
Known GenesCNTNAP2
AnalysisNo reference, merging analysis
CommentsHigh quality site
Pubmed ID23128226
Accession Number(s)esv2677971
Sample Size1151
Observed Gain0
Observed Loss45
Observed Complex0

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