A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14499247



Internal ID4501063
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:59670877..59672437hg38UCSC Ensembl
Innerchr12:59670894..59672420hg38UCSC Ensembl
Outerchr12:59670860..59672454hg38UCSC Ensembl
chr12:60064658..60066218hg19UCSC Ensembl
Innerchr12:60064675..60066201hg19UCSC Ensembl
Outerchr12:60064641..60066235hg19UCSC Ensembl
Cytoband12q14.1
Allele length
AssemblyAllele length
hg381561
hg191561
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3629664
Supporting Variants
SamplesHG03895
Known GenesSLC16A7
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14499247
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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