A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6789505



Internal ID9848193
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:54956102..54956443hg38UCSC Ensembl
Outerchr2:55183239..55183580hg19UCSC Ensembl
Cytoband2p16.1
Allele length
AssemblyAllele length
hg38342
hg19342
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2720083, esv2720078
Supporting Variants
SamplesSSM070
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)essv6789505
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