A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2746640



Internal ID10327610
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:128292441..128292631hg38UCSC Ensembl
Outerchr12:128776986..128777176hg19UCSC Ensembl
Cytoband12q24.32
Allele length
AssemblyAllele length
hg38191
hg19191
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6713071, essv6879556, essv6728410, essv6970898, essv6706284, essv6949170
SamplesSSM024, SSM046, SSM093, SSM042, SSM028, SSM040
Known GenesTMEM132C
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)esv2746640
Frequency
Sample Size96
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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