A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6668019



Internal ID9738341
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:136656767..136657810hg38UCSC Ensembl
Outerchr9:139551219..139552262hg19UCSC Ensembl
Cytoband9q34.3
Allele length
AssemblyAllele length
hg381044
hg191044
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2739380
Supporting Variants
SamplesSSM030
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)essv6668019
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