A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6679110



Internal ID9647947
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:71910534..71910917hg38UCSC Ensembl
Outerchr6:72620237..72620620hg19UCSC Ensembl
Cytoband6q13
Allele length
AssemblyAllele length
hg38384
hg19384
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2732274
Supporting Variants
SamplesSSM005
Known GenesRIMS1
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)essv6679110
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