A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2721608



Internal ID9955904
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:230996346..230996452hg38UCSC Ensembl
Outerchr2:231861061..231861167hg19UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg38107
hg19107
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6669735
SamplesSSM031
Known GenesSPATA3
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)esv2721608
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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