A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10333147



Internal ID5979053
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:235976714..236060132hg38UCSC Ensembl
chr1:236140014..236223432hg19UCSC Ensembl
Cytoband1q42.3
Allele length
AssemblyAllele length
hg3883419
hg1983419
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3589204
Supporting Variants
SamplesNA19385
Known GenesNID1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10333147
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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