A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2669189



Internal ID9588608
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:864834..1489637hg38UCSC Ensembl
chr11:864834..1510867hg19UCSC Ensembl
Cytoband11p15.5
Allele length
AssemblyAllele length
hg38624804
hg19646034
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5632898, essv5571182, essv5940958, essv6174919, essv6108800, essv6577265, essv5711207, essv6047879, essv6576737, essv5762883, essv5719082, essv6556976, essv6440256, essv5856433
SamplesNA19066, HG00318, NA20805, NA12400, NA20359, NA12399, NA20798, NA12283, NA18951, NA19247, NA20800, NA20810, NA18912, NA20530
Known GenesAP2A2, BRSK2, CHID1, MIR6744, MOB2, MUC2, MUC5B, MUC6, TOLLIP, TOLLIP-AS1, TSPAN4
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2669189
Frequency
Sample Size1151
Observed Gain0
Observed Loss14
Observed Complex0
Frequencyn/a


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