A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2746091



Internal ID10327061
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:76893548..76893703hg38UCSC Ensembl
Outerchr12:77287328..77287483hg19UCSC Ensembl
Cytoband12q21.2
Allele length
AssemblyAllele length
hg38156
hg19156
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6779500, essv6688327, essv6949130, essv6768529, essv6783596, essv6827740
SamplesSSM024, SSM064, SSM035, SSM067, SSM068, SSM080
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)esv2746091
Frequency
Sample Size96
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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