A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9896362



Internal ID4858132
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:32109816..32115936hg38UCSC Ensembl
chr1:32575417..32581537hg19UCSC Ensembl
Cytoband1p35.1
Allele length
AssemblyAllele length
hg386121
hg196121
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3585668
Supporting Variants
SamplesNA12282
Known GenesKPNA6
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv9896362
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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