A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6716157



Internal ID10128022
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:39096063..39096366hg38UCSC Ensembl
Outerchr8:38953582..38953885hg19UCSC Ensembl
Cytoband8p11.22
Allele length
AssemblyAllele length
hg38304
hg19304
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2736897
Supporting Variants
SamplesSSM043
Known GenesADAM9
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)essv6716157
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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