A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3592174



Internal ID6979501
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10641092, essv10641093
SamplesNA18915, NA18984
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3592174
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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