A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6327089



Internal ID9780912
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:149327060..149327300hg38UCSC Ensembl
chr5:148706623..148706863hg19UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg38241
hg19241
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2659018
Supporting Variants
SamplesNA19762
Known GenesAFAP1L1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6327089
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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