A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14464581



Internal ID3613378
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:43587089..43600136hg38UCSC Ensembl
Innerchr12:43587089..43600136hg38UCSC Ensembl
Outerchr12:43586973..43600261hg38UCSC Ensembl
chr12:43980892..43993939hg19UCSC Ensembl
Innerchr12:43980892..43993939hg19UCSC Ensembl
Outerchr12:43980776..43994064hg19UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg3813048
hg1913048
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3629348
Supporting Variants
SamplesHG03202
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14464581
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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