A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3405118



Internal ID14905394
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:82794352..82794371hg38UCSC Ensembl
Innerchr16:82794348..82794375hg38UCSC Ensembl
Outerchr16:82794329..82794394hg38UCSC Ensembl
chr16:82827957..82827976hg19UCSC Ensembl
Innerchr16:82827953..82827980hg19UCSC Ensembl
Outerchr16:82827934..82827999hg19UCSC Ensembl
chr16:81385458..81385477hg18UCSC Ensembl
Innerchr16:81385481..81385454hg18UCSC Ensembl
Outerchr16:81385435..81385500hg18UCSC 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 Variantsessv9672447, essv9672458
SamplesNA12043, NA07347
Known GenesCDH13
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3405118
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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