A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6965900



Internal ID9723473
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:125089931..125089990hg38UCSC Ensembl
Outerchr12:125574477..125574536hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg3860
hg1960
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2746556, esv2746557, esv2746555
Supporting Variants
SamplesSSM027
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)essv6965900
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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