A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3585038



Internal ID6625356
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:3092883..3220584hg38UCSC Ensembl
chr1:3009447..3137148hg19UCSC Ensembl
Cytoband1p36.32
Allele length
AssemblyAllele length
hg38127702
hg19127702
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9841906
SamplesHG01063
Known GenesMIR4251, PRDM16
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3585038
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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