A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2659173



Internal ID9578592
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:172327744..172328123hg38UCSC Ensembl
chr5:171754748..171755127hg19UCSC Ensembl
Cytoband5q35.1
Allele length
AssemblyAllele length
hg38380
hg19380
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5676397, essv6265997, essv5474513, essv5504144, essv5858335, essv5651236, essv5664312, essv5999801, essv6392912, essv5859090, essv6072884, essv6486880, essv6106011, essv5545200, essv5951584, essv6090559, essv6313993, essv6119576, essv5762562, essv6013834, essv6451026, essv5530308
SamplesHG00231, NA20332, NA18606, NA18550, HG00122, HG01134, NA12282, HG01170, HG01198, HG01360, NA19327, HG00324, NA18853, HG00704, NA18536, NA18546, HG00611, NA19428, NA19360, NA18610, NA18549, NA19431
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2659173
Frequency
Sample Size1151
Observed Gain0
Observed Loss22
Observed Complex0
Frequencyn/a


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