A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10762984



Internal ID2750776
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:173741650..173744341hg38UCSC Ensembl
Innerchr2:173741650..173744341hg38UCSC Ensembl
Outerchr2:173741419..173744474hg38UCSC Ensembl
chr2:174606378..174609069hg19UCSC Ensembl
Innerchr2:174606378..174609069hg19UCSC Ensembl
Outerchr2:174606147..174609202hg19UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg382692
hg192692
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3593389
Supporting Variants
SamplesHG02419
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10762984
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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