A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10886512



Internal ID6291204
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:236990672..236991865hg38UCSC Ensembl
Innerchr2:236990675..236991862hg38UCSC Ensembl
Outerchr2:236990669..236991868hg38UCSC Ensembl
chr2:237899315..237900508hg19UCSC Ensembl
Innerchr2:237899318..237900505hg19UCSC Ensembl
Outerchr2:237899312..237900511hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg381194
hg191194
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3594737
Supporting Variants
SamplesNA19835
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10886512
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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