A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3305553



Internal ID14805815
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:66563136..66563137hg38UCSC Ensembl
Innerchr14:66563101..66563172hg38UCSC Ensembl
Outerchr14:66563100..66563173hg38UCSC Ensembl
chr14:67029854..67029855hg19UCSC Ensembl
Innerchr14:67029819..67029890hg19UCSC Ensembl
Outerchr14:67029818..67029891hg19UCSC Ensembl
chr14:66099607..66099608hg18UCSC Ensembl
Innerchr14:66099643..66099572hg18UCSC Ensembl
Outerchr14:66099571..66099644hg18UCSC Ensembl
Cytoband14q23.3
Allele length
AssemblyAllele length
hg3871
hg1971
hg1871
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7751838, essv7748987
SamplesNA18542, NA18973
Known GenesGPHN
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3305553
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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