A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3308701



Internal ID14808964
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:47494507..47494508hg38UCSC Ensembl
Innerchr4:47494478..47494537hg38UCSC Ensembl
Outerchr4:47494477..47494538hg38UCSC Ensembl
chr4:47496524..47496525hg19UCSC Ensembl
Innerchr4:47496495..47496554hg19UCSC Ensembl
Outerchr4:47496494..47496555hg19UCSC Ensembl
chr4:47191281..47191282hg18UCSC Ensembl
Innerchr4:47191311..47191252hg18UCSC Ensembl
Outerchr4:47191251..47191312hg18UCSC Ensembl
Cytoband4p12
Allele length
AssemblyAllele length
hg38273
hg19273
hg18273
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7836661
SamplesNA19239
Known GenesATP10D
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3308701
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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