A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14359265



Internal ID827432
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:8787570..8795078hg38UCSC Ensembl
chr12:8940166..8947674hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg387509
hg197509
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3628480
Supporting Variants
SamplesHG00410
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14359265
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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