A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3593389



Internal ID6980713
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10762985, essv10762984
SamplesHG02419, HG02502
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3593389
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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