A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10433155



Internal ID434971
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3590096
Supporting Variants
SamplesNA20853
Known GenesDTNB
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10433155
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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