A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3310555



Internal ID14810820
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:83444837..83444837hg38UCSC Ensembl
Outerchr16:83444837..83444837hg38UCSC Ensembl
Innerchr16:83478442..83478442hg19UCSC Ensembl
Outerchr16:83478442..83478442hg19UCSC Ensembl
Innerchr16:82035943..82035943hg18UCSC Ensembl
Outerchr16:82035943..82035943hg18UCSC Ensembl
Cytoband16q23.3
Allele length
AssemblyAllele length
hg3887
hg1987
hg1887
Variant TypeCNV novel sequence insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7843393
SamplesNA12878
Known GenesCDH13
MethodSequencing
AnalysisCortex de-novo
PlatformRoche 454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3310555
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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