A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3405695



Internal ID14905971
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:83632759..83632778hg38UCSC Ensembl
Innerchr16:83632755..83632782hg38UCSC Ensembl
Outerchr16:83632736..83632801hg38UCSC Ensembl
chr16:83666364..83666383hg19UCSC Ensembl
Innerchr16:83666360..83666387hg19UCSC Ensembl
Outerchr16:83666341..83666406hg19UCSC Ensembl
chr16:82223865..82223884hg18UCSC Ensembl
Innerchr16:82223888..82223861hg18UCSC Ensembl
Outerchr16:82223842..82223907hg18UCSC Ensembl
Cytoband16q23.3
Allele length
AssemblyAllele length
hg38300
hg19300
hg18300
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9672546, essv9672513, essv9672558, essv9672535, essv9672569, essv9672502, essv9672580, essv9672524
SamplesNA19141, NA12814, NA07347, NA18970, NA12815, NA11894, NA12249, NA12043
Known GenesCDH13
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3405695
Frequency
Sample Size185
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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