A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3590227



Internal ID6977556
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:31687177..31691093hg38UCSC Ensembl
Innerchr2:31687223..31691048hg38UCSC Ensembl
Outerchr2:31687132..31691139hg38UCSC Ensembl
chr2:31912246..31916162hg19UCSC Ensembl
Innerchr2:31912292..31916117hg19UCSC Ensembl
Outerchr2:31912201..31916208hg19UCSC Ensembl
Cytoband2p23.1
Allele length
AssemblyAllele length
hg383917
hg193917
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10445120, essv10445119, essv10445118
SamplesHG03139, HG02968, NA20901
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3590227
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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