A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6853791



Internal ID10251896
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:121134377..121135094hg38UCSC Ensembl
Outerchr2:121891953..121892670hg19UCSC Ensembl
Cytoband2q14.2
Allele length
AssemblyAllele length
hg38718
hg19718
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2720654
Supporting Variants
SamplesSSM087
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)essv6853791
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