A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9841906



Internal ID6467199
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3585038
Supporting Variants
SamplesHG01063
Known GenesMIR4251, PRDM16
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv9841906
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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