A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10865471



Internal ID5832695
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:224296690..224302119hg38UCSC Ensembl
Innerchr2:224296740..224302069hg38UCSC Ensembl
Outerchr2:224296510..224302299hg38UCSC Ensembl
chr2:225161407..225166836hg19UCSC Ensembl
Innerchr2:225161457..225166786hg19UCSC Ensembl
Outerchr2:225161227..225167016hg19UCSC Ensembl
Cytoband2q36.1
Allele length
AssemblyAllele length
hg385430
hg195430
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3594463
Supporting Variants
SamplesNA19207
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10865471
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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