A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10383028



Internal ID6755757
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:248926514..248938526hg38UCSC Ensembl
chr1:249220713..249232725hg19UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg3812013
hg1912013
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3589585
Supporting Variants
SamplesNA20868
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10383028
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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