A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3587194



Internal ID6627501
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:111654312..111664861hg38UCSC Ensembl
chr1:112196934..112207483hg19UCSC Ensembl
Cytoband1p13.2
Allele length
AssemblyAllele length
hg3810550
hg1910550
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10069202
SamplesHG01512
Known GenesRAP1A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3587194
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer