A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6716851



Internal ID10128647
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:101708652..101713240hg38UCSC Ensembl
Outerchr12:102102430..102107018hg19UCSC Ensembl
Cytoband12q23.2
Allele length
AssemblyAllele length
hg384589
hg194589
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2746280
Supporting Variants
SamplesSSM043
Known GenesCHPT1
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)essv6716851
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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