A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3590096



Internal ID6630383
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:25590943..25591803hg38UCSC Ensembl
Innerchr2:25590964..25591782hg38UCSC Ensembl
Outerchr2:25590922..25591824hg38UCSC Ensembl
chr2:25813812..25814672hg19UCSC Ensembl
Innerchr2:25813833..25814651hg19UCSC Ensembl
Outerchr2:25813791..25814693hg19UCSC Ensembl
Cytoband2p23.3
Allele length
AssemblyAllele length
hg38861
hg19861
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10433155, essv10433154
SamplesNA19072, NA20853
Known GenesDTNB
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3590096
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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