A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6853637



Internal ID10251756
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:10312206..10312589hg38UCSC Ensembl
Outerchr2:10452332..10452715hg19UCSC Ensembl
Cytoband2p25.1
Allele length
AssemblyAllele length
hg38384
hg19384
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2719649, esv2719644, esv2719647, esv2719645
Supporting Variants
SamplesSSM087
Known GenesHPCAL1
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)essv6853637
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