A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6869853



Internal ID10266351
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:138907138..138955289hg38UCSC Ensembl
Outerchr6:139228275..139276426hg19UCSC Ensembl
Cytoband6q24.1
Allele length
AssemblyAllele length
hg3848152
hg1948152
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2732774
Supporting Variants
SamplesSSM090
Known GenesREPS1
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)essv6869853
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