A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2678942



Internal ID9945047
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:36236216..36236382hg38UCSC Ensembl
Outerchr6:36236179..36236432hg38UCSC Ensembl
Innerchr6:36203993..36204159hg19UCSC Ensembl
Outerchr6:36203956..36204209hg19UCSC Ensembl
Cytoband6p21.31
Allele length
AssemblyAllele length
hg38254
hg19254
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5892939, essv6065127
SamplesNA18530, NA18635
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2678942
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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