A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13113689



Internal ID2999948
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:12732303..12733498hg38UCSC Ensembl
Innerchr8:12732334..12733468hg38UCSC Ensembl
Outerchr8:12732273..12733529hg38UCSC Ensembl
chr8:12589812..12591007hg19UCSC Ensembl
Innerchr8:12589843..12590977hg19UCSC Ensembl
Outerchr8:12589782..12591038hg19UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg381196
hg191196
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3616292
Supporting Variants
SamplesHG02646
Known GenesLONRF1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13113689
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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