A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5477131



Internal ID9592993
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:64623691..64624577hg38UCSC Ensembl
Outerchr12:64623527..64624730hg38UCSC Ensembl
Innerchr12:65017471..65018357hg19UCSC Ensembl
Outerchr12:65017307..65018510hg19UCSC Ensembl
Cytoband12q14.2
Allele length
AssemblyAllele length
hg381204
hg191204
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2659793
Supporting Variants
SamplesNA19210
Known GenesRASSF3
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5477131
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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