A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9847539



Internal ID5877547
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:8050204..8053814hg38UCSC Ensembl
Innerchr1:8050211..8053807hg38UCSC Ensembl
Outerchr1:8050197..8053821hg38UCSC Ensembl
chr1:8110264..8113874hg19UCSC Ensembl
Innerchr1:8110271..8113867hg19UCSC Ensembl
Outerchr1:8110257..8113881hg19UCSC Ensembl
Cytoband1p36.23
Allele length
AssemblyAllele length
hg383611
hg193611
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3585136
Supporting Variants
SamplesNA19307
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv9847539
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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