A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14462500



Internal ID526416
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:43044770..43051829hg38UCSC Ensembl
Innerchr12:43044770..43051829hg38UCSC Ensembl
Outerchr12:43044468..43052089hg38UCSC Ensembl
chr12:43438573..43445632hg19UCSC Ensembl
Innerchr12:43438573..43445632hg19UCSC Ensembl
Outerchr12:43438271..43445892hg19UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg387060
hg197060
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3629341
Supporting Variants
SamplesHG00189
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14462500
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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