A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10883578



Internal ID2686549
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:236135665..236140743hg38UCSC Ensembl
Innerchr2:236135665..236140743hg38UCSC Ensembl
Outerchr2:236135427..236140967hg38UCSC Ensembl
chr2:237044309..237049387hg19UCSC Ensembl
Innerchr2:237044309..237049387hg19UCSC Ensembl
Outerchr2:237044071..237049611hg19UCSC Ensembl
Cytoband2q37.2
Allele length
AssemblyAllele length
hg385079
hg195079
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3594721
Supporting Variants
SamplesHG02379
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10883578
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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