A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4067n100



Internal ID22790154
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:127534614..127614504hg38UCSC Ensembl
chr2:128292190..128372079hg19UCSC Ensembl
chr2:128008660..128088549hg18UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg3879891
hg1979890
hg1879890
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1005799, nsv1001780, nsv1015051, nsv999302, nsv1005109, nsv1008180, nsv1001939, nsv1013925, nsv1013998, nsv998519
Samples
Known GenesMYO7B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv4067n100
Frequency
Sample Size11257
Observed Gain27
Observed Loss0
Observed Complex0
Frequencyn/a


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