A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10359983



Internal ID6891326
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:244122912..244217765hg38UCSC Ensembl
chr1:244286214..244381067hg19UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg3894854
hg1994854
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3589401
Supporting Variants
SamplesNA21106
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10359983
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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