A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3619076



Internal ID7005957
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:142051368..142052413hg38UCSC Ensembl
Innerchr8:142051371..142052411hg38UCSC Ensembl
Outerchr8:142051366..142052416hg38UCSC Ensembl
chr8:143132729..143133774hg19UCSC Ensembl
Innerchr8:143132732..143133772hg19UCSC Ensembl
Outerchr8:143132727..143133777hg19UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg381046
hg191046
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13361650, essv13361643, essv13361646, essv13361647, essv13361645, essv13361644, essv13361654, essv13361648, essv13361653, essv13361652, essv13361651, essv13361642, essv13361649
SamplesNA12814, HG04022, NA20910, HG03595, NA20587, HG02697, HG01344, HG04107, HG03755, HG03681, HG03729, NA20906, NA12830
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3619076
Frequency
Sample Size2504
Observed Gain0
Observed Loss13
Observed Complex0
Frequencyn/a


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