A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6400771



Internal ID9021227
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:49315392..49316741hg38UCSC Ensembl
chr12:49709175..49710524hg19UCSC Ensembl
Cytoband12q13.12
Allele length
AssemblyAllele length
hg381350
hg191350
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2677658
Supporting Variants
SamplesHG00640
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6400771
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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