A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4053n100



Internal ID22790140
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:111933693..112059117hg38UCSC Ensembl
chr2:112691270..112816694hg19UCSC Ensembl
chr2:112407741..112533165hg18UCSC Ensembl
Cytoband2q13
Allele length
AssemblyAllele length
hg38125425
hg19125425
hg18125425
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv999746, nsv1003129
Samples
Known GenesMERTK, TMEM87B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv4053n100
Frequency
Sample Size11257
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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