A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6814951



Internal ID10216937
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:122875158..122875315hg38UCSC Ensembl
Outerchr8:123887397..123887554hg19UCSC Ensembl
Cytoband8q24.13
Allele length
AssemblyAllele length
hg38158
hg19158
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2737525
Supporting Variants
SamplesSSM077
Known GenesZHX2
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)essv6814951
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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