A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3591764



Internal ID6632048
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:101296961..101299047hg38UCSC Ensembl
Innerchr2:101296967..101299041hg38UCSC Ensembl
Outerchr2:101296955..101299053hg38UCSC Ensembl
chr2:101913423..101915509hg19UCSC Ensembl
Innerchr2:101913429..101915503hg19UCSC Ensembl
Outerchr2:101913417..101915515hg19UCSC Ensembl
Cytoband2q11.2
Allele length
AssemblyAllele length
hg382087
hg192087
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10597313, essv10597312
SamplesNA19072, HG03854
Known GenesRNF149
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3591764
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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