A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10536670



Internal ID1357796
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:70157241..70159387hg38UCSC Ensembl
Innerchr2:70157282..70159346hg38UCSC Ensembl
Outerchr2:70157200..70159428hg38UCSC Ensembl
chr2:70384373..70386519hg19UCSC Ensembl
Innerchr2:70384414..70386478hg19UCSC Ensembl
Outerchr2:70384332..70386560hg19UCSC Ensembl
Cytoband2p13.3
Allele length
AssemblyAllele length
hg382147
hg192147
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3591201
Supporting Variants
SamplesHG01197
Known GenesC2orf42
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10536670
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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