A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2746490



Internal ID10327460
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:121678429..121678903hg38UCSC Ensembl
Outerchr12:122116335..122116809hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg38475
hg19475
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6857319, essv6851314
SamplesSSM087, SSM086
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)esv2746490
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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