A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7866036



Internal ID12971524
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:55469463..55469472hg38UCSC Ensembl
Innerchr18:55469444..55469491hg38UCSC Ensembl
Outerchr18:55469435..55469500hg38UCSC Ensembl
chr18:53136694..53136703hg19UCSC Ensembl
Innerchr18:53136675..53136722hg19UCSC Ensembl
Outerchr18:53136666..53136731hg19UCSC Ensembl
chr18:51287692..51287701hg18UCSC Ensembl
Innerchr18:51287720..51287673hg18UCSC Ensembl
Outerchr18:51287664..51287729hg18UCSC Ensembl
Cytoband18q21.2
Allele length
AssemblyAllele length
hg3854
hg1954
hg1854
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3418608
Supporting Variants
SamplesNA12005
Known GenesTCF4
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7866036
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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