A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9851315



Internal ID6476608
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:9670031..9692162hg38UCSC Ensembl
chr1:9730089..9752220hg19UCSC Ensembl
Cytoband1p36.22
Allele length
AssemblyAllele length
hg3822132
hg1922132
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3585185
Supporting Variants
SamplesHG01867
Known GenesPIK3CD
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv9851315
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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