A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10379319



Internal ID381135
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:248650030..248662535hg38UCSC Ensembl
chr1:248813331..248825836hg19UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg3812506
hg1912506
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3589561
Supporting Variants
SamplesHG03132
Known GenesOR2T27
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10379319
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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