A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2719889



Internal ID9954183
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:33275926..33276124hg38UCSC Ensembl
Outerchr2:33500993..33501191hg19UCSC Ensembl
Cytoband2p22.3
Allele length
AssemblyAllele length
hg38199
hg19199
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6707530, essv6889253, essv6697186
SamplesSSM097, SSM041, SSM038
Known GenesLTBP1
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)esv2719889
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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