A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7864463



Internal ID12970278
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:65679646..65679652hg38UCSC Ensembl
Innerchr5:65679631..65679667hg38UCSC Ensembl
Outerchr5:65679625..65679673hg38UCSC Ensembl
chr5:64975473..64975479hg19UCSC Ensembl
Innerchr5:64975458..64975494hg19UCSC Ensembl
Outerchr5:64975452..64975500hg19UCSC Ensembl
chr5:65011229..65011235hg18UCSC Ensembl
Innerchr5:65011250..65011214hg18UCSC Ensembl
Outerchr5:65011208..65011256hg18UCSC Ensembl
Cytoband5q12.3
Allele length
AssemblyAllele length
hg3850
hg1950
hg1850
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3367273
Supporting Variants
SamplesNA12005
Known GenesSGTB
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7864463
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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