A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7865730



Internal ID13318033
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:50543800..50543841hg38UCSC Ensembl
Innerchr14:50543802..50543839hg38UCSC Ensembl
Outerchr14:50543798..50543843hg38UCSC Ensembl
chr14:51010518..51010559hg19UCSC Ensembl
Innerchr14:51010520..51010557hg19UCSC Ensembl
Outerchr14:51010516..51010561hg19UCSC Ensembl
chr14:50080268..50080309hg18UCSC Ensembl
Innerchr14:50080270..50080307hg18UCSC Ensembl
Outerchr14:50080266..50080311hg18UCSC Ensembl
Cytoband14q22.1
Allele length
AssemblyAllele length
hg3854
hg1954
hg1854
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3351061
Supporting Variants
SamplesNA12005
Known GenesATL1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7865730
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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