A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7866017



Internal ID12971508
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:12719715..12719726hg38UCSC Ensembl
Innerchr18:12719717..12719724hg38UCSC Ensembl
Outerchr18:12719713..12719728hg38UCSC Ensembl
chr18:12719714..12719725hg19UCSC Ensembl
Innerchr18:12719716..12719723hg19UCSC Ensembl
Outerchr18:12719712..12719727hg19UCSC Ensembl
chr18:12709714..12709725hg18UCSC Ensembl
Innerchr18:12709716..12709723hg18UCSC Ensembl
Outerchr18:12709712..12709727hg18UCSC Ensembl
Cytoband18p11.21
Allele length
AssemblyAllele length
hg3850
hg1950
hg1850
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3430281
Supporting Variants
SamplesNA12005
Known GenesPSMG2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7866017
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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