A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10315236



Internal ID1746871
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:229378731..229409671hg38UCSC Ensembl
chr1:229514478..229545418hg19UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg3830941
hg1930941
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3589074
Supporting Variants
SamplesHG01613
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10315236
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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