A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3585319



Internal ID6625638
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:15711480..15745355hg38UCSC Ensembl
chr1:16037975..16071850hg19UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg3833876
hg1933876
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9863696, essv9863702, essv9863698, essv9863695, essv9863700, essv9863705, essv9863699, essv9863697, essv9863704, essv9863703, essv9863701
SamplesHG03697, NA20874, HG04211, HG03653, HG03973, HG03754, HG03713, HG02690, HG03644, HG03976, HG03730
Known GenesPLEKHM2, SLC25A34, TMEM82
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3585319
Frequency
Sample Size2504
Observed Gain11
Observed Loss0
Observed Complex0
Frequencyn/a


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