A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6929419



Internal ID9693119
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:54907753..54908125hg38UCSC Ensembl
Outerchr2:55134890..55135262hg19UCSC Ensembl
Cytoband2p16.1
Allele length
AssemblyAllele length
hg38373
hg19373
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2720082, esv2720078
Supporting Variants
SamplesSSM020
Known GenesEML6
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)essv6929419
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