A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2721588



Internal ID10305224
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:229249613..229250035hg38UCSC Ensembl
Outerchr2:230114329..230114751hg19UCSC Ensembl
Cytoband2q36.3
Allele length
AssemblyAllele length
hg38423
hg19423
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6968448
SamplesSSM028
Known GenesPID1
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)esv2721588
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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