A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6834402



Internal ID10234256
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:127407958..127408148hg38UCSC Ensembl
Outerchr8:128420203..128420393hg19UCSC Ensembl
Cytoband8q24.21
Allele length
AssemblyAllele length
hg38191
hg19191
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2737566, esv2737564
Supporting Variants
SamplesSSM082
Known Genes
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)essv6834402
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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