A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8740891



Internal ID14738030
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:3110967..3111030hg38UCSC Ensembl
Innerchr18:3110980..3111017hg38UCSC Ensembl
Outerchr18:3110917..3111080hg38UCSC Ensembl
chr18:3110965..3111028hg19UCSC Ensembl
Innerchr18:3110978..3111015hg19UCSC Ensembl
Outerchr18:3110915..3111078hg19UCSC Ensembl
chr18:3100965..3101028hg18UCSC Ensembl
Innerchr18:3101015..3100978hg18UCSC Ensembl
Outerchr18:3100915..3101078hg18UCSC Ensembl
Cytoband18p11.31
Allele length
AssemblyAllele length
hg3864
hg1964
hg1864
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3416065
Supporting Variants
SamplesNA19240
Known GenesMYOM1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8740891
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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