A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10641092



Internal ID5370246
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:120212679..120214993hg38UCSC Ensembl
Innerchr2:120212695..120214978hg38UCSC Ensembl
Outerchr2:120212664..120215009hg38UCSC Ensembl
chr2:120970255..120972569hg19UCSC Ensembl
Innerchr2:120970271..120972554hg19UCSC Ensembl
Outerchr2:120970240..120972585hg19UCSC Ensembl
Cytoband2q14.2
Allele length
AssemblyAllele length
hg382315
hg192315
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3592174
Supporting Variants
SamplesNA18915
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10641092
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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