A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3593968



Internal ID6981290
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:200971749..200972631hg38UCSC Ensembl
Innerchr2:200971751..200972629hg38UCSC Ensembl
Outerchr2:200971747..200972633hg38UCSC Ensembl
chr2:201836472..201837354hg19UCSC Ensembl
Innerchr2:201836474..201837352hg19UCSC Ensembl
Outerchr2:201836470..201837356hg19UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg38883
hg19883
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10822996, essv10822993, essv10822992, essv10822994, essv10822997, essv10822995
SamplesHG00599, HG02178, HG00543, NA18544, NA18963, NA18615
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3593968
Frequency
Sample Size2504
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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