A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2678661



Internal ID9944766
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:75463856..75467174hg38UCSC Ensembl
chr5:74759681..74762999hg19UCSC Ensembl
Cytoband5q13.3
Allele length
AssemblyAllele length
hg383319
hg193319
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5667256, essv6365805, essv6352601
SamplesHG00122, HG00118, HG00119
Known GenesCOL4A3BP
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2678661
Frequency
Sample Size1151
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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