A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11765504



Internal ID1767320
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:453680..475646hg38UCSC Ensembl
chr5:453795..475761hg19UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg3821967
hg1921967
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3603748
Supporting Variants
SamplesHG03166
Known GenesEXOC3, PP7080, SLC9A3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11765504
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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