A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3892233



Internal ID19183053
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:82739311..82812563hg38UCSC Ensembl
Outerchr12:82739311..82812563hg38UCSC Ensembl
Innerchr12:83133090..83206342hg19UCSC Ensembl
Outerchr12:83133090..83206342hg19UCSC Ensembl
Innerchr12:81657221..81730473hg18UCSC Ensembl
Outerchr12:81657221..81730473hg18UCSC Ensembl
Cytoband12q21.31
Allele length
AssemblyAllele length
hg3873253
hg1973253
hg1873253
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25796744
Samples
Known GenesTMTC2
MethodSNP array
Analysis
PlatformIllumina Human OmniExpress
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3892233
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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