A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7866119



Internal ID12971572
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:50303243..50303286hg38UCSC Ensembl
Innerchr19:50303245..50303284hg38UCSC Ensembl
Outerchr19:50303241..50303288hg38UCSC Ensembl
chr19:50806500..50806543hg19UCSC Ensembl
Innerchr19:50806502..50806541hg19UCSC Ensembl
Outerchr19:50806498..50806545hg19UCSC Ensembl
chr19:55498312..55498355hg18UCSC Ensembl
Innerchr19:55498314..55498353hg18UCSC Ensembl
Outerchr19:55498310..55498357hg18UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg3852
hg1952
hg1852
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3346691
Supporting Variants
SamplesNA12005
Known GenesMYH14
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7866119
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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