A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2739185



Internal ID9973526
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:133827241..133827489hg38UCSC Ensembl
Outerchr9:136692363..136692611hg19UCSC Ensembl
Cytoband9q34.2
Allele length
AssemblyAllele length
hg38249
hg19249
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1270e201
Supporting Variantsessv6830936, essv6727947, essv6791430, essv6894300, essv6720306
SamplesSSM046, SSM044, SSM081, SSM070, SSM098
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)esv2739185
Frequency
Sample Size96
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer