A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6860946



Internal ID10259338
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:96712367..96712591hg38UCSC Ensembl
Outerchr6:97160243..97160467hg19UCSC Ensembl
Cytoband6q16.1
Allele length
AssemblyAllele length
hg38225
hg19225
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2732462, esv2732460
Supporting Variants
SamplesSSM088
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)essv6860946
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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