A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2665246



Internal ID9584665
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:4250556..4251588hg38UCSC Ensembl
Outerchr16:4250489..4251671hg38UCSC Ensembl
Innerchr16:4300557..4301589hg19UCSC Ensembl
Outerchr16:4300490..4301672hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg381183
hg191183
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5900630, essv6244350, essv6397660, essv6365881, essv6024171, essv5954151, essv6568200, essv5509689, essv5577650, essv5914935, essv5938094, essv5738275, essv6113037, essv6168617
SamplesNA12045, HG01461, NA12400, NA19920, NA18988, NA18942, NA18986, NA19722, NA18908, NA20525, HG00525, NA19818, NA19713, NA19900
Known GenesLOC100507501
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2665246
Frequency
Sample Size1151
Observed Gain0
Observed Loss14
Observed Complex0
Frequencyn/a


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