A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6843960



Internal ID9896360
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:119417492..119469316hg38UCSC Ensembl
Outerchr1:119960115..120011939hg19UCSC Ensembl
Cytoband1p12
Allele length
AssemblyAllele length
hg3851825
hg1951825
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2716762
Supporting Variants
SamplesSSM085
Known GenesHSD3B2
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)essv6843960
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