A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6859528



Internal ID9913927
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:45415180..45415262hg38UCSC Ensembl
Outerchr2:45642319..45642401hg19UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg3883
hg1983
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2720009, esv2720008
Supporting Variants
SamplesSSM088
Known GenesSRBD1
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)essv6859528
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