A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12115660



Internal ID2117476
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:159919330..159949654hg38UCSC Ensembl
chr5:159346337..159376661hg19UCSC Ensembl
Cytoband5q33.3
Allele length
AssemblyAllele length
hg3830325
hg1930325
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3607354
Supporting Variants
SamplesHG01528
Known GenesADRA1B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12115660
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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