A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2678051



Internal ID9944156
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:92996774..93033625hg38UCSC Ensembl
chr6:93706492..93743343hg19UCSC Ensembl
Cytoband6q16.1
Allele length
AssemblyAllele length
hg3836852
hg1936852
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6018783, essv5812783, essv5607828, essv5483620, essv5866556, essv5856096, essv5650230, essv5617871, essv6364484, essv5893541, essv5403435, essv5430055, essv5785660, essv5810919, essv6232282
SamplesHG01359, HG01374, NA18616, NA20774, HG01365, NA19719, NA19002, HG00732, HG00651, NA19469, NA18628, NA19248, NA18631, HG00377, NA19463
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2678051
Frequency
Sample Size1151
Observed Gain0
Observed Loss15
Observed Complex0
Frequencyn/a


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