A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2745461



Internal ID10326431
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:5928175..5928805hg38UCSC Ensembl
Outerchr12:6037341..6037971hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg38631
hg19631
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6970765, essv6938640, essv6940294, essv6834654, essv6688250
SamplesSSM028, SSM035, SSM003, SSM022, SSM010
Known GenesANO2
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)esv2745461
Frequency
Sample Size96
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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