A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3367198



Internal ID14867457
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:1185631..1186222hg38UCSC Ensembl
Innerchr16:1185631..1186222hg38UCSC Ensembl
Outerchr16:1185224..1186903hg38UCSC Ensembl
chr16:1235631..1236222hg19UCSC Ensembl
Innerchr16:1235631..1236222hg19UCSC Ensembl
Outerchr16:1235224..1236903hg19UCSC Ensembl
chr16:1175632..1176223hg18UCSC Ensembl
Innerchr16:1175632..1176223hg18UCSC Ensembl
Outerchr16:1175225..1176904hg18UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg38592
hg19592
hg18592
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8651935
SamplesNA19240
Known GenesCACNA1H
MethodSequencing
Analysis
PlatformSOLiD
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3367198
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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