A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2677971



Internal ID9597390
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:146602875..146605550hg38UCSC Ensembl
chr7:146299967..146302642hg19UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg382676
hg192676
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
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2677971
Frequency
Sample Size1151
Observed Gain0
Observed Loss45
Observed Complex0
Frequencyn/a


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