A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8694408



Internal ID15044103
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:37647535..37650733hg38UCSC Ensembl
Innerchr4:37648535..37649733hg38UCSC Ensembl
Outerchr4:37646535..37651733hg38UCSC Ensembl
chr4:37649157..37652355hg19UCSC Ensembl
Innerchr4:37650157..37651355hg19UCSC Ensembl
Outerchr4:37648157..37653355hg19UCSC Ensembl
chr4:37325552..37328750hg18UCSC Ensembl
Innerchr4:37326552..37327750hg18UCSC Ensembl
Outerchr4:37324552..37329750hg18UCSC Ensembl
Cytoband4p14
Allele length
AssemblyAllele length
hg383199
hg193199
hg183199
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag0
Merged StatusS
Merged Variantsesv3444544
Supporting Variants
SamplesNA19239
Known GenesRELL1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8694408
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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