A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10868432



Internal ID5529764
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3594506
Supporting Variants
SamplesNA18997
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10868432
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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