A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6501666



Internal ID9897460
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:66147807..66148344hg38UCSC Ensembl
chr5:65443635..65444172hg19UCSC Ensembl
Cytoband5q12.3
Allele length
AssemblyAllele length
hg38538
hg19538
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2661452
Supporting Variants
SamplesNA20786
Known GenesSREK1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6501666
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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