A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12899851



Internal ID5067686
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:95368653..95374511hg38UCSC Ensembl
Innerchr7:95368653..95374511hg38UCSC Ensembl
Outerchr7:95368454..95374625hg38UCSC Ensembl
chr7:94997965..95003823hg19UCSC Ensembl
Innerchr7:94997965..95003823hg19UCSC Ensembl
Outerchr7:94997766..95003937hg19UCSC Ensembl
Cytoband7q21.3
Allele length
AssemblyAllele length
hg385859
hg195859
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3614193
Supporting Variants
SamplesNA18538
Known GenesPON3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12899851
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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