A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6787031



Internal ID10003361
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:30605945..30609186hg38UCSC Ensembl
Outerchr2:30828811..30832052hg19UCSC Ensembl
Cytoband2p23.1
Allele length
AssemblyAllele length
hg383242
hg193242
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2719865
Supporting Variants
SamplesSSM009
Known GenesLCLAT1
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)essv6787031
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