A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6912680



Internal ID9675051
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:121851613..121852076hg38UCSC Ensembl
Outerchr12:122289519..122289982hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg38464
hg19464
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2746496
Supporting Variants
SamplesSSM015
Known GenesHPD
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)essv6912680
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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