A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10705227



Internal ID5681744
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:146654074..146656926hg38UCSC Ensembl
Innerchr2:146654074..146656926hg38UCSC Ensembl
Outerchr2:146653835..146657178hg38UCSC Ensembl
chr2:147411642..147414494hg19UCSC Ensembl
Innerchr2:147411642..147414494hg19UCSC Ensembl
Outerchr2:147411403..147414746hg19UCSC Ensembl
Cytoband2q22.3
Allele length
AssemblyAllele length
hg382853
hg192853
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3592806
Supporting Variants
SamplesNA19081
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10705227
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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