A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2746850



Internal ID10327820
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:131382317..131382707hg38UCSC Ensembl
Outerchr12:131866862..131867252hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg38391
hg19391
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6695659, essv6796129, essv6806456, essv6838711, essv6965949, essv6783658, essv6842532
SamplesSSM083, SSM071, SSM027, SSM074, SSM084, SSM068, SSM037
Known Genes
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)esv2746850
Frequency
Sample Size96
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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