A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10597313



Internal ID599129
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3591764
Supporting Variants
SamplesNA19072
Known GenesRNF149
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10597313
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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