A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6740516



Internal ID9802640
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:39150541..39151235hg38UCSC Ensembl
Outerchr8:39008060..39008754hg19UCSC Ensembl
Cytoband8p11.22
Allele length
AssemblyAllele length
hg38695
hg19695
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2736899, esv2736898
Supporting Variants
SamplesSSM052
Known GenesADAM32
MethodSequencing
AnalysisBreakdancer:4 times standard deviation,VariationHunter:4 times standard deviation and at least 3 supportting reads
PlatformIllumina HiSeq 2000
Comments
ReferenceWong_et_al_2012b
Pubmed ID23290073
Accession Number(s)essv6740516
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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