A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10356782



Internal ID6099806
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:242644241..242798479hg38UCSC Ensembl
chr1:242807543..242961781hg19UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg38154239
hg19154239
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3589373
Supporting Variants
SamplesNA19475
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10356782
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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