A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2675960



Internal ID9942065
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:67747469..67755720hg38UCSC Ensembl
chr13:68321601..68329852hg19UCSC Ensembl
Cytoband13q21.32
Allele length
AssemblyAllele length
hg388252
hg198252
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6569866, essv6380795, essv6473034, essv5758930, essv6201739
SamplesNA19703, NA18909, NA18517, NA19438, NA19474
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2675960
Frequency
Sample Size1151
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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