A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8694419



Internal ID15044207
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:40824778..40826376hg38UCSC Ensembl
Innerchr4:40825376..40825778hg38UCSC Ensembl
Outerchr4:40823778..40827376hg38UCSC Ensembl
chr4:40826795..40828393hg19UCSC Ensembl
Innerchr4:40827393..40827795hg19UCSC Ensembl
Outerchr4:40825795..40829393hg19UCSC Ensembl
chr4:40521552..40523150hg18UCSC Ensembl
Innerchr4:40522552..40522150hg18UCSC Ensembl
Outerchr4:40520552..40524150hg18UCSC Ensembl
Cytoband4p14
Allele length
AssemblyAllele length
hg381599
hg191599
hg181599
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3399840
Supporting Variants
SamplesNA19239
Known GenesAPBB2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8694419
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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