A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7866080



Internal ID12971545
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:13488391..13488416hg38UCSC Ensembl
Innerchr19:13488393..13488414hg38UCSC Ensembl
Outerchr19:13488389..13488418hg38UCSC Ensembl
chr19:13599205..13599230hg19UCSC Ensembl
Innerchr19:13599207..13599228hg19UCSC Ensembl
Outerchr19:13599203..13599232hg19UCSC Ensembl
chr19:13460205..13460230hg18UCSC Ensembl
Innerchr19:13460207..13460228hg18UCSC Ensembl
Outerchr19:13460203..13460232hg18UCSC Ensembl
Cytoband19p13.13
Allele length
AssemblyAllele length
hg3850
hg1950
hg1850
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3429165
Supporting Variants
SamplesNA12005
Known GenesCACNA1A
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7866080
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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