A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6168464



Internal ID9145867
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:179214140..179214290hg38UCSC Ensembl
chr5:178641141..178641291hg19UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg38151
hg19151
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2664480
Supporting Variants
SamplesNA18603
Known GenesADAMTS2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6168464
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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