A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2670236



Internal ID9936341
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:57986972..57994635hg38UCSC Ensembl
chr11:57754444..57762107hg19UCSC Ensembl
Cytoband11q12.1
Allele length
AssemblyAllele length
hg387664
hg197664
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6299527, essv6190599, essv6196955, essv6494644, essv5924915, essv5625041, essv6335227, essv6004749, essv5586487
SamplesNA19399, NA19393, NA19373, NA19457, NA19391, NA19469, NA19398, NA19468, NA19713
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2670236
Frequency
Sample Size1151
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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