A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10757771



Internal ID5045266
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:169847386..169853401hg38UCSC Ensembl
Innerchr2:169847404..169853383hg38UCSC Ensembl
Outerchr2:169847368..169853419hg38UCSC Ensembl
chr2:170703896..170709911hg19UCSC Ensembl
Innerchr2:170703914..170709893hg19UCSC Ensembl
Outerchr2:170703878..170709929hg19UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg386016
hg196016
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3593331
Supporting Variants
SamplesNA18528
Known GenesUBR3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10757771
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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