A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14340801



Internal ID4480323
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:4452961..4454685hg38UCSC Ensembl
Innerchr12:4452961..4454685hg38UCSC Ensembl
Outerchr12:4452615..4454970hg38UCSC Ensembl
chr12:4562127..4563851hg19UCSC Ensembl
Innerchr12:4562127..4563851hg19UCSC Ensembl
Outerchr12:4561781..4564136hg19UCSC Ensembl
Cytoband12p13.32
Allele length
AssemblyAllele length
hg381725
hg191725
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3628359
Supporting Variants
SamplesHG03978
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14340801
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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