A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2724975



Internal ID10308611
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:16751578..16751789hg38UCSC Ensembl
Outerchr3:16793085..16793296hg19UCSC Ensembl
Cytoband3p24.3
Allele length
AssemblyAllele length
hg38212
hg19212
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6669814, essv6707711, essv6973354
SamplesSSM041, SSM029, SSM031
Known Genes
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)esv2724975
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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