A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv5212n100



Internal ID22791299
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:56076751..56189215hg38UCSC Ensembl
chr4:56942917..57055381hg19UCSC Ensembl
chr4:56637674..56750138hg18UCSC Ensembl
Cytoband4q12
Allele length
AssemblyAllele length
hg38112465
hg19112465
hg18112465
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1007114, nsv999328
Samples
Known GenesKIAA1211
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv5212n100
Frequency
Sample Size11257
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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