A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6681208



Internal ID9750699
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:133827257..133828417hg38UCSC Ensembl
Outerchr9:136692379..136693539hg19UCSC Ensembl
Cytoband9q34.2
Allele length
AssemblyAllele length
hg381161
hg191161
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2739186, esv2739183, esv2739188, esv2739138
Supporting Variants
SamplesSSM033
Known GenesVAV2
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)essv6681208
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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