A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6013834



Internal ID8991238
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 Flag1
Merged StatusS
Merged Variantsesv2659173
Supporting Variants
SamplesNA12282
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6013834
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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