A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2721369



Internal ID10305005
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:202412479..202416987hg38UCSC Ensembl
Outerchr2:203277202..203281710hg19UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg384509
hg194509
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6733782
SamplesSSM049
Known GenesBMPR2
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)esv2721369
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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