A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2677933



Internal ID9944038
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:11603338..11606392hg38UCSC Ensembl
Outerchr12:11603301..11606442hg38UCSC Ensembl
Innerchr12:11756272..11759326hg19UCSC Ensembl
Outerchr12:11756235..11759376hg19UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg383142
hg193142
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6405938
SamplesHG01191
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2677933
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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