A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6844200



Internal ID10243261
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:127979274..127979748hg38UCSC Ensembl
Outerchr2:128736848..128737322hg19UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg38475
hg19475
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2720731
Supporting Variants
SamplesSSM085
Known GenesSAP130
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)essv6844200
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