A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6955616



Internal ID10064427
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:241326489..241326605hg38UCSC Ensembl
Outerchr2:242265904..242266020hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg38117
hg19117
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2721993, esv2721994
Supporting Variants
SamplesSSM026
Known GenesSEPT2
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)essv6955616
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