A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2668040



Internal ID9587459
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:208286..208542hg38UCSC Ensembl
chr3:249969..250225hg19UCSC Ensembl
Cytoband3p26.3
Allele length
AssemblyAllele length
hg38257
hg19257
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6280856, essv6349161, essv5400559, essv6298708, essv5679547, essv5401877, essv6443307, essv5462146, essv6038076, essv6575307, essv6162270, essv6370716, essv5618931, essv5456440, essv5751851, essv5888427, essv5927672
SamplesHG00734, NA20346, NA18511, NA19455, NA19435, HG01188, NA18488, NA19355, NA18856, NA19440, NA19375, NA19384, NA19901, NA19130, NA19473, NA19385, NA19439
Known GenesCHL1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2668040
Frequency
Sample Size1151
Observed Gain0
Observed Loss17
Observed Complex0
Frequencyn/a


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