A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10905380



Internal ID907196
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:4635466..4636593hg38UCSC Ensembl
Innerchr3:4635492..4636567hg38UCSC Ensembl
Outerchr3:4635440..4636619hg38UCSC Ensembl
chr3:4677150..4678277hg19UCSC Ensembl
Innerchr3:4677176..4678251hg19UCSC Ensembl
Outerchr3:4677124..4678303hg19UCSC Ensembl
Cytoband3p26.1
Allele length
AssemblyAllele length
hg381128
hg191128
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3595109
Supporting Variants
SamplesNA12749
Known GenesITPR1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10905380
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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