A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6695106



Internal ID9761765
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:133998557..133998840hg38UCSC Ensembl
Outerchr9:136863679..136863962hg19UCSC Ensembl
Cytoband9q34.2
Allele length
AssemblyAllele length
hg38284
hg19284
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2739197, esv2739138
Supporting Variants
SamplesSSM037
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)essv6695106
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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