A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2724935



Internal ID9959237
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:12448651..12448814hg38UCSC Ensembl
Outerchr3:12490150..12490313hg19UCSC Ensembl
Cytoband3p25.2
Allele length
AssemblyAllele length
hg38164
hg19164
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6825548, essv6683269, essv6675708
SamplesSSM032, SSM080, SSM034
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)esv2724935
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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