A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6877994



Internal ID10273677
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:222616968..222617256hg38UCSC Ensembl
Outerchr2:223481687..223481975hg19UCSC Ensembl
Cytoband2q36.1
Allele length
AssemblyAllele length
hg38289
hg19289
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2721519, esv2721518
Supporting Variants
SamplesSSM093
Known GenesFARSB
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)essv6877994
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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