A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2677989



Internal ID9944094
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:115382794..115397195hg38UCSC Ensembl
chr6:115703958..115718359hg19UCSC Ensembl
Cytoband6q22.1
Allele length
AssemblyAllele length
hg3814402
hg1914402
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5407920, essv6068994, essv5573026, essv6214288, essv6048755, essv5953966, essv5567019, essv6331368, essv5749312, essv5812396, essv6493817, essv5525210, essv6539149, essv5791096, essv5516158, essv5547049, essv6513325, essv5921097, essv6373964, essv5564683, essv6506070, essv6209054, essv6141645, essv6215191
SamplesNA19703, NA19204, NA20346, NA18510, NA19916, NA18916, NA19138, NA19371, NA19207, NA19200, NA19152, NA19391, NA19257, NA19256, NA19147, NA19835, NA19818, NA19223, NA19713, NA19102, NA19116, NA19900, NA18522, NA19429
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2677989
Frequency
Sample Size1151
Observed Gain0
Observed Loss24
Observed Complex0
Frequencyn/a


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