A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6837513



Internal ID10237430
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:123052699..123053103hg38UCSC Ensembl
Outerchr6:123373844..123374248hg19UCSC Ensembl
Cytoband6q22.31
Allele length
AssemblyAllele length
hg38405
hg19405
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2732655
Supporting Variants
SamplesSSM083
Known GenesCLVS2
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)essv6837513
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