A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6849260



Internal ID10247816
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:122758982..122759211hg38UCSC Ensembl
Outerchr6:123080127..123080356hg19UCSC Ensembl
Cytoband6q22.31
Allele length
AssemblyAllele length
hg38230
hg19230
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2732651
Supporting Variants
SamplesSSM086
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)essv6849260
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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