A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3595109



Internal ID6635384
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10905380
SamplesNA12749
Known GenesITPR1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3595109
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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