A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8973739



Internal ID13913459
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:55478829..55478841hg38UCSC Ensembl
Innerchr18:55478820..55478847hg38UCSC Ensembl
Outerchr18:55478808..55478862hg38UCSC Ensembl
chr18:53146060..53146072hg19UCSC Ensembl
Innerchr18:53146051..53146078hg19UCSC Ensembl
Outerchr18:53146039..53146093hg19UCSC Ensembl
chr18:51297058..51297070hg18UCSC Ensembl
Innerchr18:51297076..51297049hg18UCSC Ensembl
Outerchr18:51297037..51297091hg18UCSC Ensembl
Cytoband18q21.2
Allele length
AssemblyAllele length
hg38283
hg19283
hg18283
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3338493
Supporting Variants
SamplesNA18592
Known GenesTCF4
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8973739
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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