A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14503110



Internal ID1065856
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:60648312..60655098hg38UCSC Ensembl
Innerchr12:60648312..60655098hg38UCSC Ensembl
Outerchr12:60648110..60655287hg38UCSC Ensembl
chr12:61042093..61048879hg19UCSC Ensembl
Innerchr12:61042093..61048879hg19UCSC Ensembl
Outerchr12:61041891..61049068hg19UCSC Ensembl
Cytoband12q14.1
Allele length
AssemblyAllele length
hg386787
hg196787
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3629689
Supporting Variants
SamplesHG00690
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14503110
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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