A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7865788



Internal ID12971392
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:103395332..103395366hg38UCSC Ensembl
Innerchr14:103395334..103395364hg38UCSC Ensembl
Outerchr14:103395330..103395368hg38UCSC Ensembl
chr14:103861669..103861703hg19UCSC Ensembl
Innerchr14:103861671..103861701hg19UCSC Ensembl
Outerchr14:103861667..103861705hg19UCSC Ensembl
chr14:102931422..102931456hg18UCSC Ensembl
Innerchr14:102931424..102931454hg18UCSC Ensembl
Outerchr14:102931420..102931458hg18UCSC Ensembl
Cytoband14q32.32
Allele length
AssemblyAllele length
hg3854
hg1954
hg1854
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3409253
Supporting Variants
SamplesNA12005
Known GenesMARK3
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7865788
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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