A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2739190



Internal ID9973531
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:133915526..133915766hg38UCSC Ensembl
Outerchr9:136780648..136780888hg19UCSC Ensembl
Cytoband9q34.2
Allele length
AssemblyAllele length
hg38241
hg19241
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6823237, essv6850537, essv6791433, essv6958547, essv6890930, essv6830938, essv6919731
SamplesSSM079, SSM097, SSM026, SSM017, SSM086, SSM081, SSM070
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)esv2739190
Frequency
Sample Size96
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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