A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2661245



Internal ID9580664
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:88825036..88825601hg38UCSC Ensembl
chr16:88891444..88892009hg19UCSC Ensembl
Cytoband16q24.3
Allele length
AssemblyAllele length
hg38566
hg19566
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5518933, essv5985692, essv6412846, essv6130341, essv6527563, essv6567728, essv5429907, essv5651496, essv6272435, essv5408978, essv6443942, essv6528771, essv5663776
SamplesNA20356, NA18510, NA19404, HG01187, NA18516, NA18910, NA18871, NA19461, NA19436, NA19108, NA20281, NA19328, NA19711
Known GenesGALNS
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2661245
Frequency
Sample Size1151
Observed Gain0
Observed Loss13
Observed Complex0
Frequencyn/a


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