A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13330266



Internal ID4358113
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:130838474..130840477hg38UCSC Ensembl
Innerchr8:130838476..130840475hg38UCSC Ensembl
Outerchr8:130838472..130840479hg38UCSC Ensembl
chr8:131850720..131852723hg19UCSC Ensembl
Innerchr8:131850722..131852721hg19UCSC Ensembl
Outerchr8:131850718..131852725hg19UCSC Ensembl
Cytoband8q24.22
Allele length
AssemblyAllele length
hg382004
hg192004
Variant TypeCNV loss
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3618837
Supporting Variants
SamplesHG03894
Known GenesADCY8
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13330266
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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