A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2675320



Internal ID9941425
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:9482195..9487583hg38UCSC Ensembl
chr11:9503742..9509130hg19UCSC Ensembl
Cytoband11p15.4
Allele length
AssemblyAllele length
hg385389
hg195389
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5667434, essv6394935, essv6183427, essv5887468, essv6341253, essv6181737, essv6148154, essv6056216, essv6456267, essv6474789, essv6529554, essv6019699, essv6555490, essv6590564
SamplesNA19394, HG01052, NA19355, NA19920, NA19381, NA18874, NA18908, NA19982, NA18910, NA19434, NA19444, NA19439, NA19311, NA19463
Known GenesZNF143
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2675320
Frequency
Sample Size1151
Observed Gain0
Observed Loss14
Observed Complex0
Frequencyn/a


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