A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6697959



Internal ID10112405
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:82384768..82385162hg38UCSC Ensembl
Outerchr6:83094485..83094879hg19UCSC Ensembl
Cytoband6q14.1
Allele length
AssemblyAllele length
hg38395
hg19395
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2732357
Supporting Variants
SamplesSSM038
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)essv6697959
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