A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2720834



Internal ID9955130
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:132422430..132423330hg38UCSC Ensembl
Outerchr2:133180003..133180903hg19UCSC Ensembl
Cytoband2q21.2
Allele length
AssemblyAllele length
hg38901
hg19901
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6707612
SamplesSSM041
Known GenesGPR39
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)esv2720834
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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