A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6819216



Internal ID9872214
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:134524599..134524765hg38UCSC Ensembl
Outerchr9:137416445..137416611hg19UCSC Ensembl
Cytoband9q34.3
Allele length
AssemblyAllele length
hg38167
hg19167
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2739226, esv2739224, esv2739138, esv2739223
Supporting Variants
SamplesSSM078
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)essv6819216
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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