A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10041432



Internal ID2652031
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:104144112..104157819hg38UCSC Ensembl
chr1:104686734..104700441hg19UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg3813708
hg1913708
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3587033
Supporting Variants
SamplesHG02345
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10041432
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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