A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8691232



Internal ID13317760
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:57024423..57024921hg38UCSC Ensembl
Innerchr18:57024422..57024922hg38UCSC Ensembl
Outerchr18:57023423..57025921hg38UCSC Ensembl
chr18:54691654..54692152hg19UCSC Ensembl
Innerchr18:54691653..54692153hg19UCSC Ensembl
Outerchr18:54690654..54693152hg19UCSC Ensembl
chr18:52842652..52843150hg18UCSC Ensembl
Innerchr18:52843151..52842651hg18UCSC Ensembl
Outerchr18:52841652..52844150hg18UCSC Ensembl
Cytoband18q21.31
Allele length
AssemblyAllele length
hg38499
hg19499
hg18499
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3342486
Supporting Variants
SamplesNA12878
Known GenesWDR7
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8691232
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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