A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6748049



Internal ID9810263
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:106263025..106269450hg38UCSC Ensembl
Outerchr2:106879481..106885906hg19UCSC Ensembl
Cytoband2q12.2
Allele length
AssemblyAllele length
hg386426
hg196426
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2720482, esv2720485
Supporting Variants
SamplesSSM056
Known Genes
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)essv6748049
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