A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2742067



Internal ID9976351
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:225018520..225018750hg38UCSC Ensembl
Outerchr2:225883237..225883467hg19UCSC Ensembl
Cytoband2q36.2
Allele length
AssemblyAllele length
hg38231
hg19231
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv631e201
Supporting Variantsessv6819976
SamplesSSM010
Known GenesDOCK10
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)esv2742067
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