A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12692779



Internal ID5566682
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:18759196..18761594hg38UCSC Ensembl
Innerchr7:18759244..18761547hg38UCSC Ensembl
Outerchr7:18759149..18761642hg38UCSC Ensembl
chr7:18798819..18801217hg19UCSC Ensembl
Innerchr7:18798867..18801170hg19UCSC Ensembl
Outerchr7:18798772..18801265hg19UCSC Ensembl
Cytoband7p21.1
Allele length
AssemblyAllele length
hg382399
hg192399
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3612457
Supporting Variants
SamplesNA19012
Known GenesHDAC9
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12692779
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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