A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13272649



Internal ID2896795
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:105154687..105155746hg38UCSC Ensembl
Innerchr8:105154737..105155696hg38UCSC Ensembl
Outerchr8:105154631..105155802hg38UCSC Ensembl
chr8:106166915..106167974hg19UCSC Ensembl
Innerchr8:106166965..106167924hg19UCSC Ensembl
Outerchr8:106166859..106168030hg19UCSC Ensembl
Cytoband8q22.3
Allele length
AssemblyAllele length
hg381060
hg191060
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3618283
Supporting Variants
SamplesHG02570
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13272649
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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