A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14359554



Internal ID4361370
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:8864257..8865292hg38UCSC Ensembl
Innerchr12:8864307..8865242hg38UCSC Ensembl
Outerchr12:8863939..8865610hg38UCSC Ensembl
chr12:9016853..9017888hg19UCSC Ensembl
Innerchr12:9016903..9017838hg19UCSC Ensembl
Outerchr12:9016535..9018206hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg381036
hg191036
Variant TypeCNV loss
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3628484
Supporting Variants
SamplesHG00565
Known GenesA2ML1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14359554
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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