A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10309262



Internal ID311078
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:226070529..226075723hg38UCSC Ensembl
chr1:226258230..226263424hg19UCSC Ensembl
Cytoband1q42.12
Allele length
AssemblyAllele length
hg385195
hg195195
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3589008
Supporting Variants
SamplesHG00139
Known GenesH3F3A, H3F3AP4
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10309262
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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