A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv577n100



Internal ID22786664
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:216981772..217042123hg38UCSC Ensembl
chr1:217155114..217215465hg19UCSC Ensembl
chr1:215221737..215282088hg18UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg3860352
hg1960352
hg1860352
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1004880, nsv1012243, nsv1011212, nsv1006155, nsv1008670
Samples
Known GenesESRRG
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv577n100
Frequency
Sample Size11257
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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