A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6838048



Internal ID10237913
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:75225885..75226016hg38UCSC Ensembl
Outerchr8:76138120..76138251hg19UCSC Ensembl
Cytoband8q21.11
Allele length
AssemblyAllele length
hg38132
hg19132
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2737188, esv2737189, esv2737190
Supporting Variants
SamplesSSM083
Known GenesCASC9
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)essv6838048
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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