A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8918117



Internal ID14997383
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:33631103..33631147hg38UCSC Ensembl
Innerchr4:33631117..33631131hg38UCSC Ensembl
Outerchr4:33631073..33631175hg38UCSC Ensembl
chr4:33632725..33632769hg19UCSC Ensembl
Innerchr4:33632739..33632753hg19UCSC Ensembl
Outerchr4:33632695..33632797hg19UCSC Ensembl
chr4:33309120..33309164hg18UCSC Ensembl
Innerchr4:33309148..33309134hg18UCSC Ensembl
Outerchr4:33309090..33309192hg18UCSC Ensembl
Cytoband4p15.1
Allele length
AssemblyAllele length
hg38239
hg19239
hg18239
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3405041
Supporting Variants
SamplesNA19225
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8918117
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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