A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6791923



Internal ID9849449
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:125089913..125090247hg38UCSC Ensembl
Outerchr12:125574459..125574793hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg38335
hg19335
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2746556, esv2746555
Supporting Variants
SamplesSSM070
Known GenesAACS
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)essv6791923
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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