A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2341n54



Internal ID20135765
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:8697591..8698822hg38UCSC Ensembl
chr12:8850187..8851418hg19UCSC Ensembl
chr12:8741454..8742685hg18UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg381232
hg191232
hg181232
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv557345, nsv557350, nsv557349, nsv557344, nsv557352, nsv557343
Samples
Known GenesRIMKLB
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv2341n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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