A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv557n100



Internal ID22786644
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:196874041..196893138hg38UCSC Ensembl
chr1:196843171..196862268hg19UCSC Ensembl
chr1:195109794..195128891hg18UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg3819098
hg1919098
hg1819098
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1013541, nsv1004621
Samples
Known GenesCFHR4
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv557n100
Frequency
Sample Size11257
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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