A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7843393



Internal ID13275798
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:83444837..83444837hg38UCSC Ensembl
chr16:83478442..83478442hg19UCSC Ensembl
chr16:82035943..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 StatusS
Merged Variantsesv3310555
Supporting Variants
SamplesNA12878
Known GenesCDH13
MethodSequencing
AnalysisCortex de-novo
PlatformRoche 454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7843393
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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