A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3590513



Internal ID6977842
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:42888197..42891324hg38UCSC Ensembl
Innerchr2:42888230..42891291hg38UCSC Ensembl
Outerchr2:42888164..42891357hg38UCSC Ensembl
chr2:43115337..43118464hg19UCSC Ensembl
Innerchr2:43115370..43118431hg19UCSC Ensembl
Outerchr2:43115304..43118497hg19UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg383128
hg193128
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10481685
SamplesHG00881
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3590513
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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