A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6716347



Internal ID10128194
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:130277830..130277997hg38UCSC Ensembl
Outerchr9:133040109..133040276hg19UCSC Ensembl
Cytoband9q34.11
Allele length
AssemblyAllele length
hg38168
hg19168
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2739100, esv2739099
Supporting Variants
SamplesSSM043
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)essv6716347
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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