A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8694267



Internal ID14733806
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:1651828..1653826hg38UCSC Ensembl
Innerchr4:1652826..1652828hg38UCSC Ensembl
Outerchr4:1650827..1654826hg38UCSC Ensembl
chr4:1653555..1655553hg19UCSC Ensembl
Innerchr4:1654553..1654555hg19UCSC Ensembl
Outerchr4:1652554..1656553hg19UCSC Ensembl
chr4:1623352..1625350hg18UCSC Ensembl
Innerchr4:1624352..1624350hg18UCSC Ensembl
Outerchr4:1622352..1626350hg18UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg381999
hg191999
hg181999
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3396266
Supporting Variants
SamplesNA19240
Known GenesFAM53A
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8694267
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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