A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10643027



Internal ID6198640
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:121089410..121098710hg38UCSC Ensembl
Innerchr2:121089458..121098663hg38UCSC Ensembl
Outerchr2:121089363..121098758hg38UCSC Ensembl
chr2:121846986..121856286hg19UCSC Ensembl
Innerchr2:121847034..121856239hg19UCSC Ensembl
Outerchr2:121846939..121856334hg19UCSC Ensembl
Cytoband2q14.2
Allele length
AssemblyAllele length
hg389301
hg199301
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3592199
Supporting Variants
SamplesNA19726
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10643027
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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