A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9847777



Internal ID6372135
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:8300122..8304038hg38UCSC Ensembl
Innerchr1:8300144..8304017hg38UCSC Ensembl
Outerchr1:8300101..8304060hg38UCSC Ensembl
chr1:8360182..8364098hg19UCSC Ensembl
Innerchr1:8360204..8364077hg19UCSC Ensembl
Outerchr1:8360161..8364120hg19UCSC Ensembl
Cytoband1p36.23
Allele length
AssemblyAllele length
hg383917
hg193917
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3585145
Supporting Variants
SamplesNA20314
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv9847777
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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