A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14376481



Internal ID4378297
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:10722261..10757732hg38UCSC Ensembl
chr12:10874860..10910331hg19UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg3835472
hg1935472
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3628544
Supporting Variants
SamplesHG01256
Known GenesYBX3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14376481
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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