A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11765501



Internal ID982161
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:453680..475646hg38UCSC Ensembl
chr5:453795..475761hg19UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg3821967
hg1921967
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3603747
Supporting Variants
SamplesHG00610
Known GenesEXOC3, PP7080, SLC9A3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11765501
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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