A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6022212



Internal ID9053563
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:54876639..54877563hg38UCSC Ensembl
Outerchr1:54876482..54877716hg38UCSC Ensembl
Innerchr1:55342312..55343236hg19UCSC Ensembl
Outerchr1:55342155..55343389hg19UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg381235
hg191235
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2676460
Supporting Variants
SamplesHG00701
Known GenesDHCR24
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6022212
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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