A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6915572



Internal ID10026592
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:6730327..6730633hg38UCSC Ensembl
Outerchr8:6587848..6588154hg19UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38307
hg19307
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2736536
Supporting Variants
SamplesSSM016
Known GenesAGPAT5
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)essv6915572
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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