A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2674128



Internal ID9593547
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:87753581..87763384hg38UCSC Ensembl
chr16:87787187..87796990hg19UCSC Ensembl
Cytoband16q24.2
Allele length
AssemblyAllele length
hg389804
hg199804
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5787164
SamplesHG01354
Known GenesKLHDC4
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2674128
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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