A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3594506



Internal ID6981826
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:225989363..225999795hg38UCSC Ensembl
Innerchr2:225989363..225999795hg38UCSC Ensembl
Outerchr2:225988863..226000295hg38UCSC Ensembl
chr2:226854079..226864511hg19UCSC Ensembl
Innerchr2:226854079..226864511hg19UCSC Ensembl
Outerchr2:226853579..226865011hg19UCSC Ensembl
Cytoband2q36.3
Allele length
AssemblyAllele length
hg3810433
hg1910433
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10868432
SamplesNA18997
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3594506
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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