A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6920784



Internal ID9987078
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:230536455..230536960hg38UCSC Ensembl
Outerchr2:231401170..231401675hg19UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg38506
hg19506
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2721602
Supporting Variants
SamplesSSM003
Known GenesSP100
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)essv6920784
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