A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6778829



Internal ID9837741
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:40601621..40601798hg38UCSC Ensembl
Outerchr8:40459140..40459317hg19UCSC Ensembl
Cytoband8p11.21
Allele length
AssemblyAllele length
hg38178
hg19178
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2736914, esv2736913, esv2736919
Supporting Variants
SamplesSSM067
Known GenesZMAT4
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)essv6778829
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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