A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9896543



Internal ID6521836
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:33404909..33620947hg38UCSC Ensembl
chr1:33870510..34086547hg19UCSC Ensembl
Cytoband1p35.1
Allele length
AssemblyAllele length
hg38216039
hg19216038
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3585687
Supporting Variants
SamplesNA11893
Known GenesCSMD2, ZSCAN20
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv9896543
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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