A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6864329



Internal ID9914693
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:47426906..47426981hg38UCSC Ensembl
Outerchr2:47654045..47654120hg19UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg3876
hg1976
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2720024, esv2720025
Supporting Variants
SamplesSSM089
Known GenesMSH2
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)essv6864329
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