A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6691255



Internal ID9757686
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:133827239..133828428hg38UCSC Ensembl
Outerchr9:136692361..136693550hg19UCSC Ensembl
Cytoband9q34.2
Allele length
AssemblyAllele length
hg381190
hg191190
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2739183, esv2739138
Supporting Variants
SamplesSSM036
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)essv6691255
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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