A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2670384



Internal ID9936489
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:16535627..16536616hg38UCSC Ensembl
chr5:16535736..16536725hg19UCSC Ensembl
Cytoband5p15.1
Allele length
AssemblyAllele length
hg38990
hg19990
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6064286
SamplesNA12003
Known GenesFAM134B
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2670384
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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