A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3590182



Internal ID6977511
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:29508308..29514324hg38UCSC Ensembl
Innerchr2:29508308..29514324hg38UCSC Ensembl
Outerchr2:29508059..29514554hg38UCSC Ensembl
chr2:29731174..29737190hg19UCSC Ensembl
Innerchr2:29731174..29737190hg19UCSC Ensembl
Outerchr2:29730925..29737420hg19UCSC Ensembl
Cytoband2p23.2
Allele length
AssemblyAllele length
hg386017
hg196017
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10438734, essv10438733, essv10438729, essv10438730, essv10438731, essv10438732
SamplesHG01571, HG00238, NA20518, HG01536, NA19749, NA19818
Known GenesALK
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3590182
Frequency
Sample Size2504
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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