A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8673503



Internal ID15069385
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:21022076..21022088hg38UCSC Ensembl
Innerchr18:21022067..21022097hg38UCSC Ensembl
Outerchr18:21022055..21022109hg38UCSC Ensembl
chr18:18602037..18602049hg19UCSC Ensembl
Innerchr18:18602028..18602058hg19UCSC Ensembl
Outerchr18:18602016..18602070hg19UCSC Ensembl
chr18:16856035..16856047hg18UCSC Ensembl
Innerchr18:16856056..16856026hg18UCSC Ensembl
Outerchr18:16856014..16856068hg18UCSC Ensembl
Cytoband18q11.1
Allele length
AssemblyAllele length
hg38289
hg19289
hg18289
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3327515
Supporting Variants
SamplesNA19239
Known GenesROCK1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8673503
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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