A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11154456



Internal ID1134100
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:132328496..132333897hg38UCSC Ensembl
Innerchr3:132328496..132333897hg38UCSC Ensembl
Outerchr3:132328203..132334184hg38UCSC Ensembl
chr3:132047340..132052741hg19UCSC Ensembl
Innerchr3:132047340..132052741hg19UCSC Ensembl
Outerchr3:132047047..132053028hg19UCSC Ensembl
Cytoband3q22.1
Allele length
AssemblyAllele length
hg385402
hg195402
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3597825
Supporting Variants
SamplesHG00867
Known GenesACPP
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11154456
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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