A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14565339



Internal ID1323423
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:88375196..88421859hg38UCSC Ensembl
chr12:88768973..88815636hg19UCSC Ensembl
Cytoband12q21.32
Allele length
AssemblyAllele length
hg3846664
hg1946664
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3630300
Supporting Variants
SamplesHG01168
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14565339
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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