A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6047813



Internal ID9025216
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:49019133..49021139hg38UCSC Ensembl
Outerchr12:49018462..49021809hg38UCSC Ensembl
Innerchr12:49412916..49414922hg19UCSC Ensembl
Outerchr12:49412245..49415592hg19UCSC Ensembl
Cytoband12q13.12
Allele length
AssemblyAllele length
hg383348
hg193348
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag0
Merged StatusS
Merged Variantsesv2662608
Supporting Variants
SamplesHG00346
Known GenesKMT2D, PRKAG1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6047813
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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