A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6931409



Internal ID10040679
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:135838206..135838386hg38UCSC Ensembl
Outerchr9:138730052..138730232hg19UCSC Ensembl
Cytoband9q34.3
Allele length
AssemblyAllele length
hg38181
hg19181
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2739312, esv2739313
Supporting Variants
SamplesSSM020
Known GenesCAMSAP1
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)essv6931409
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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