A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2739194



Internal ID9973535
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:133977700..133978205hg38UCSC Ensembl
Outerchr9:136842822..136843327hg19UCSC Ensembl
Cytoband9q34.2
Allele length
AssemblyAllele length
hg38506
hg19506
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6850538, essv6845641, essv6672496, essv6799796
SamplesSSM031, SSM086, SSM085, SSM072
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)esv2739194
Frequency
Sample Size96
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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