A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2674111



Internal ID9940216
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:121474423..121479200hg38UCSC Ensembl
chr6:121795569..121800346hg19UCSC Ensembl
Cytoband6q22.31
Allele length
AssemblyAllele length
hg384778
hg194778
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5744693, essv5602684, essv5892239, essv6556994, essv6112431, essv6151357, essv6353183, essv6479918, essv5434541, essv5819124, essv5894089, essv6371582, essv6406975, essv5602512, essv5895042, essv5696706, essv6312773
SamplesHG01359, HG01052, NA18870, NA19384, NA19404, NA19471, NA18908, NA18910, HG01073, NA18853, NA19440, NA19360, NA19102, NA19116, NA19129, NA19312, NA19429
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2674111
Frequency
Sample Size1151
Observed Gain0
Observed Loss17
Observed Complex0
Frequencyn/a


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