A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3591210



Internal ID6978538
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:70623469..70628646hg38UCSC Ensembl
Innerchr2:70623469..70628646hg38UCSC Ensembl
Outerchr2:70623363..70628746hg38UCSC Ensembl
chr2:70850601..70855778hg19UCSC Ensembl
Innerchr2:70850601..70855778hg19UCSC Ensembl
Outerchr2:70850495..70855878hg19UCSC Ensembl
Cytoband2p13.3
Allele length
AssemblyAllele length
hg385178
hg195178
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10537772
SamplesNA19921
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3591210
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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