A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9915273



Internal ID6540566
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:39021596..39033061hg38UCSC Ensembl
chr1:39487268..39498733hg19UCSC Ensembl
Cytoband1p34.3
Allele length
AssemblyAllele length
hg3811466
hg1911466
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3585778
Supporting Variants
SamplesHG03437
Known GenesNDUFS5
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv9915273
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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