A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3617771



Internal ID7004656
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:80125315..80131234hg38UCSC Ensembl
Innerchr8:80125332..80131218hg38UCSC Ensembl
Outerchr8:80125299..80131251hg38UCSC Ensembl
chr8:81037550..81043469hg19UCSC Ensembl
Innerchr8:81037567..81043453hg19UCSC Ensembl
Outerchr8:81037534..81043486hg19UCSC Ensembl
Cytoband8q21.13
Allele length
AssemblyAllele length
hg385920
hg195920
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13238924, essv13238923, essv13238922, essv13238926, essv13238925
SamplesHG03235, HG03943, HG03824, HG03898, NA19072
Known GenesTPD52
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3617771
Frequency
Sample Size2504
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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