A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6424932



Internal ID9353704
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:55476940..55477535hg38UCSC Ensembl
chr6:55341738..55342333hg19UCSC Ensembl
Cytoband6p12.1
Allele length
AssemblyAllele length
hg38596
hg19596
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2662832
Supporting Variants
SamplesNA18548
Known GenesHMGCLL1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6424932
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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