A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2677918



Internal ID9944023
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:172437762..172439739hg38UCSC Ensembl
chr2:173302490..173304467hg19UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg381978
hg191978
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6526237, essv5514553, essv6363271, essv6276355, essv5930289, essv6042256, essv5743571, essv5757724, essv5494346, essv6248356, essv5950692, essv6199033, essv5833539, essv6131723, essv6031810, essv5487509, essv5794487, essv5667208, essv5819251, essv5881851
SamplesHG00189, NA12842, HG00306, HG00177, HG00369, HG01365, HG00158, NA12777, HG01187, HG00331, NA19761, NA20828, HG00246, NA12775, HG00366, NA19732, NA07051, HG00319, HG00339, HG00186
Known GenesITGA6
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2677918
Frequency
Sample Size1151
Observed Gain0
Observed Loss20
Observed Complex0
Frequencyn/a


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