A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14623646



Internal ID4955679
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:124681121..124684241hg38UCSC Ensembl
Innerchr12:124681163..124684199hg38UCSC Ensembl
Outerchr12:124681079..124684283hg38UCSC Ensembl
chr12:125165667..125168787hg19UCSC Ensembl
Innerchr12:125165709..125168745hg19UCSC Ensembl
Outerchr12:125165625..125168829hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg383121
hg193121
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3631022
Supporting Variants
SamplesNA12828
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14623646
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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