A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14338148



Internal ID4339964
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:2878298..2882677hg38UCSC Ensembl
Innerchr12:2878305..2882670hg38UCSC Ensembl
Outerchr12:2878291..2882684hg38UCSC Ensembl
chr12:2987464..2991843hg19UCSC Ensembl
Innerchr12:2987471..2991836hg19UCSC Ensembl
Outerchr12:2987457..2991850hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg384380
hg194380
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3628325
Supporting Variants
SamplesHG03452
Known GenesRHNO1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14338148
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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