A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv6n100



Internal ID20151622
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:1301750..1362354hg38UCSC Ensembl
chr1:1237130..1297734hg19UCSC Ensembl
chr1:1226993..1287597hg18UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg3860605
hg1960605
hg1860605
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1006409, nsv1007042
Samples
Known GenesACAP3, CPSF3L, DVL1, GLTPD1, MIR6727, MIR6808, MXRA8, PUSL1, TAS1R3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv6n100
Frequency
Sample Size29084
Observed Gain3
Observed Loss22
Observed Complex0
Frequencyn/a


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