A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv5701n100



Internal ID22791788
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:76313861..76355961hg38UCSC Ensembl
chr5:75609686..75651786hg19UCSC Ensembl
chr5:75645442..75687542hg18UCSC Ensembl
Cytoband5q13.3
Allele length
AssemblyAllele length
hg3842101
hg1942101
hg1842101
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1020853, nsv1032033, nsv1028669, nsv1023310
Samples
Known GenesSV2C
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv5701n100
Frequency
Sample Size11257
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer