A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2719675



Internal ID10303311
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:11617947..11618438hg38UCSC Ensembl
Outerchr2:11758073..11758564hg19UCSC Ensembl
Cytoband2p25.1
Allele length
AssemblyAllele length
hg38492
hg19492
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6955209, essv6836458, essv6946761, essv6689508, essv6710849, essv6853641, essv6937964, essv6968247
SamplesSSM036, SSM083, SSM024, SSM087, SSM042, SSM028, SSM026, SSM022
Known GenesGREB1
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)esv2719675
Frequency
Sample Size96
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer