A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2746512



Internal ID9980796
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:123753078..123753173hg38UCSC Ensembl
Outerchr12:124237625..124237720hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg3896
hg1996
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6867260
SamplesSSM089
Known GenesATP6V0A2
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)esv2746512
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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