A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2674711



Internal ID9940816
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:16027986..16049783hg38UCSC Ensembl
chr1:16354481..16376278hg19UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg3821798
hg1921798
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5449000, essv6073654, essv6534826, essv5945246
SamplesNA18596, HG00159, NA18557, NA20533
Known GenesCLCNKA, CLCNKB
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2674711
Frequency
Sample Size1151
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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