A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv6238n100



Internal ID22792325
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:4810816..5030133hg38UCSC Ensembl
chr7:4850447..5069764hg19UCSC Ensembl
chr7:4816973..5036290hg18UCSC Ensembl
Cytoband7p22.1
Allele length
AssemblyAllele length
hg38219318
hg19219318
hg18219318
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1025467, nsv1033855
Samples
Known GenesMMD2, PAPOLB, RADIL, RNF216P1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv6238n100
Frequency
Sample Size11257
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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