A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2672563



Internal ID9938668
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:53012592..53013817hg38UCSC Ensembl
chr3:53046608..53047833hg19UCSC Ensembl
Cytoband3p21.1
Allele length
AssemblyAllele length
hg381226
hg191226
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6546763, essv6289734, essv5998687, essv6434868, essv6133666, essv5592917, essv6398186, essv5914557, essv6156851, essv5679167, essv5419971, essv5482929
SamplesNA19355, NA19107, HG01083, NA19371, NA18908, HG01073, NA19449, NA19452, NA19428, NA20281, NA19360, NA19900
Known GenesSFMBT1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2672563
Frequency
Sample Size1151
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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