A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2665320



Internal ID9931425
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:45029311..45072877hg38UCSC Ensembl
Outerchr6:45029274..45072927hg38UCSC Ensembl
Innerchr6:44997048..45040614hg19UCSC Ensembl
Outerchr6:44997011..45040664hg19UCSC Ensembl
Cytoband6p21.1
Allele length
AssemblyAllele length
hg3843654
hg1943654
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5648117
SamplesHG00136
Known GenesSUPT3H
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2665320
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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