A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10007042



Internal ID8858
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:85514778..85540461hg38UCSC Ensembl
chr1:85980461..86006144hg19UCSC Ensembl
Cytoband1p22.3
Allele length
AssemblyAllele length
hg3825684
hg1925684
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3586684
Supporting Variants
SamplesHG03162
Known GenesDDAH1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10007042
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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