A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2664208



Internal ID9930313
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:44535295..44544654hg38UCSC Ensembl
chr6:44503032..44512391hg19UCSC Ensembl
Cytoband6p21.1
Allele length
AssemblyAllele length
hg389360
hg199360
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6509906
SamplesNA19466
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2664208
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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