A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10663660



Internal ID2536993
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:127452659..127455019hg38UCSC Ensembl
Innerchr2:127452676..127455002hg38UCSC Ensembl
Outerchr2:127452642..127455036hg38UCSC Ensembl
chr2:128210235..128212595hg19UCSC Ensembl
Innerchr2:128210252..128212578hg19UCSC Ensembl
Outerchr2:128210218..128212612hg19UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg382361
hg192361
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3592360
Supporting Variants
SamplesHG02255
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10663660
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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