A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9863704



Internal ID6488997
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3585319
Supporting Variants
SamplesHG04211
Known GenesPLEKHM2, SLC25A34, TMEM82
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv9863704
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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