A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14344418



Internal ID5486637
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:5535234..5543807hg38UCSC Ensembl
Innerchr12:5535251..5543790hg38UCSC Ensembl
Outerchr12:5535217..5543824hg38UCSC Ensembl
chr12:5644400..5652973hg19UCSC Ensembl
Innerchr12:5644417..5652956hg19UCSC Ensembl
Outerchr12:5644383..5652990hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg388574
hg198574
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3628385
Supporting Variants
SamplesNA18980
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14344418
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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