A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10905375



Internal ID907191
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:4531067..4532498hg38UCSC Ensembl
Innerchr3:4531087..4532478hg38UCSC Ensembl
Outerchr3:4531047..4532518hg38UCSC Ensembl
chr3:4572751..4574182hg19UCSC Ensembl
Innerchr3:4572771..4574162hg19UCSC Ensembl
Outerchr3:4572731..4574202hg19UCSC Ensembl
Cytoband3p26.1
Allele length
AssemblyAllele length
hg381432
hg191432
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3595106
Supporting Variants
SamplesHG01613
Known GenesITPR1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10905375
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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