A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2720414



Internal ID9954710
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:96772494..96772903hg38UCSC Ensembl
Outerchr2:97438231..97438640hg19UCSC Ensembl
Cytoband2q11.2
Allele length
AssemblyAllele length
hg38410
hg19410
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6832907
SamplesSSM082
Known GenesCNNM4
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)esv2720414
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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