A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14548540



Internal ID5747232
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:80577122..80586067hg38UCSC Ensembl
Innerchr12:80577622..80585567hg38UCSC Ensembl
Outerchr12:80576122..80587067hg38UCSC Ensembl
chr12:80970901..80979846hg19UCSC Ensembl
Innerchr12:80971401..80979346hg19UCSC Ensembl
Outerchr12:80969901..80980846hg19UCSC Ensembl
Cytoband12q21.31
Allele length
AssemblyAllele length
hg388946
hg198946
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3630117
Supporting Variants
SamplesNA19118
Known GenesPTPRQ
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14548540
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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