A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14422517



Internal ID5683553
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:28701275..28707766hg38UCSC Ensembl
Innerchr12:28701312..28707729hg38UCSC Ensembl
Outerchr12:28701238..28707803hg38UCSC Ensembl
chr12:28854208..28860699hg19UCSC Ensembl
Innerchr12:28854245..28860662hg19UCSC Ensembl
Outerchr12:28854171..28860736hg19UCSC Ensembl
Cytoband12p11.22
Allele length
AssemblyAllele length
hg386492
hg196492
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3628973
Supporting Variants
SamplesNA19082
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14422517
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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