A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8918193



Internal ID14910194
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:39072187..39072221hg38UCSC Ensembl
Innerchr4:39072189..39072217hg38UCSC Ensembl
Outerchr4:39072155..39072251hg38UCSC Ensembl
chr4:39073807..39073841hg19UCSC Ensembl
Innerchr4:39073809..39073837hg19UCSC Ensembl
Outerchr4:39073775..39073871hg19UCSC Ensembl
chr4:38750202..38750236hg18UCSC Ensembl
Innerchr4:38750232..38750204hg18UCSC Ensembl
Outerchr4:38750170..38750266hg18UCSC Ensembl
Cytoband4p14
Allele length
AssemblyAllele length
hg38150
hg19150
hg18150
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3338664
Supporting Variants
SamplesNA19138
Known GenesKLHL5
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8918193
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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