A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9851317



Internal ID830288
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:9762265..9765788hg38UCSC Ensembl
Innerchr1:9762265..9765788hg38UCSC Ensembl
Outerchr1:9762055..9766129hg38UCSC Ensembl
chr1:9822323..9825846hg19UCSC Ensembl
Innerchr1:9822323..9825846hg19UCSC Ensembl
Outerchr1:9822113..9826187hg19UCSC Ensembl
Cytoband1p36.22
Allele length
AssemblyAllele length
hg383524
hg193524
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3585187
Supporting Variants
SamplesHG00419
Known GenesCLSTN1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv9851317
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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