A curated catalogue of human genomic structural variation




Variant Details

Variant: esv999149



Internal ID7064785
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:82744093..82812563hg38UCSC Ensembl
Innerchr12:83137872..83206342hg19UCSC Ensembl
Innerchr12:81662003..81730473hg18UCSC Ensembl
Cytoband12q21.31
Allele length
AssemblyAllele length
hg3868471
hg1968471
hg1868471
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3586050
SamplesHuRef
Known GenesTMTC2
MethodSNP array
AnalysisPooled samples.
PlatformNot Submitted
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv999149
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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