A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2738787



Internal ID10322423
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:93575476..93575880hg38UCSC Ensembl
Outerchr9:96337758..96338162hg19UCSC Ensembl
Cytoband9q22.31
Allele length
AssemblyAllele length
hg38405
hg19405
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6884795
SamplesSSM095
Known Genes
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)esv2738787
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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