A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10765099



Internal ID1619026
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:175720911..175732819hg38UCSC Ensembl
Innerchr2:175720911..175732819hg38UCSC Ensembl
Outerchr2:175720411..175733319hg38UCSC Ensembl
chr2:176585639..176597547hg19UCSC Ensembl
Innerchr2:176585639..176597547hg19UCSC Ensembl
Outerchr2:176585139..176598047hg19UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg3811909
hg1911909
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3593431
Supporting Variants
SamplesHG01500
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10765099
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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