A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3630389



Internal ID7017208
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:92949656..92955890hg38UCSC Ensembl
chr12:93343432..93349666hg19UCSC Ensembl
Cytoband12q22
Allele length
AssemblyAllele length
hg386235
hg196235
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14570314, essv14570311, essv14570322, essv14570315, essv14570318, essv14570304, essv14570316, essv14570323, essv14570309, essv14570308, essv14570330, essv14570326, essv14570303, essv14570321, essv14570317, essv14570302, essv14570313, essv14570310, essv14570325, essv14570306, essv14570324, essv14570328, essv14570312, essv14570307, essv14570319, essv14570327, essv14570329, essv14570320, essv14570301, essv14570300, essv14570305
SamplesNA19466, NA18647, NA18592, NA18561, NA19057, HG00663, NA18940, NA18595, HG02140, HG00689, HG00634, HG00610, NA18571, HG00406, NA18638, HG00464, HG00443, HG00584, NA18637, NA18948, NA19000, NA19001, NA18632, HG00580, NA18943, HG00614, NA19468, NA18609, NA18612, NA18622, NA18965
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3630389
Frequency
Sample Size2504
Observed Gain31
Observed Loss0
Observed Complex0
Frequencyn/a


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