A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2662769



Internal ID9928874
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:130413180..130414060hg38UCSC Ensembl
chr3:130132024..130132904hg19UCSC Ensembl
Cytoband3q22.1
Allele length
AssemblyAllele length
hg38881
hg19881
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6362945, essv6497198, essv6493818, essv5837115, essv6053529, essv6264755, essv5842936, essv6438912, essv6575779, essv5865300, essv6408583, essv5488022, essv6294987, essv6267924, essv6108349, essv5649220, essv6560355, essv6508834, essv5461668, essv5668686, essv6524900, essv5709072
SamplesHG00640, NA12751, NA20808, HG01351, NA19678, HG01488, NA12891, HG01492, NA20518, HG00106, HG00253, NA12003, NA12878, HG00344, HG00239, NA12892, HG00146, NA20828, HG00141, NA12043, HG00259, HG00267
Known GenesCOL6A5
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2662769
Frequency
Sample Size1151
Observed Gain0
Observed Loss22
Observed Complex0
Frequencyn/a


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