A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2669758



Internal ID9589177
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:135287747..135289781hg38UCSC Ensembl
chr6:135608885..135610919hg19UCSC Ensembl
Cytoband6q23.3
Allele length
AssemblyAllele length
hg382035
hg192035
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5973845, essv6226530, essv6046466, essv5746141, essv5991099, essv6098103, essv5966947, essv6399125
SamplesNA18520, NA19355, NA18912, NA19982, NA19917, NA19675, NA19396, HG00637
Known GenesAHI1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2669758
Frequency
Sample Size1151
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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