A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2739136



Internal ID10322772
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:132571963..132576426hg38UCSC Ensembl
Outerchr9:135447350..135451813hg19UCSC Ensembl
Cytoband9q34.13
Allele length
AssemblyAllele length
hg384464
hg194464
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6976352, essv6904534, essv6968096, essv6775326, essv6724099, essv6791423
SamplesSSM045, SSM013, SSM029, SSM066, SSM070, SSM004
Known GenesC9orf171
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)esv2739136
Frequency
Sample Size96
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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