A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11765489



Internal ID1767305
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:301153..312236hg38UCSC Ensembl
chr5:301268..312351hg19UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg3811084
hg1911084
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3603741
Supporting Variants
SamplesNA18550
Known GenesAHRR, PDCD6
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11765489
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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