A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2661372



Internal ID9927477
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:83873147..84372080hg38UCSC Ensembl
Outerchr12:83872990..84372233hg38UCSC Ensembl
Innerchr12:84266926..84765859hg19UCSC Ensembl
Outerchr12:84266769..84766012hg19UCSC Ensembl
Cytoband12q21.31
Allele length
AssemblyAllele length
hg38499244
hg19499244
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6216830, essv6357013, essv6376356, essv6191337, essv5718925, essv5500835
SamplesNA18565, HG01465, HG01350, HG00651, NA18535, NA18543
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2661372
Frequency
Sample Size1151
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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