A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2677610



Internal ID9943715
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:102432853..102436754hg38UCSC Ensembl
chr11:102303584..102307485hg19UCSC Ensembl
Cytoband11q22.2
Allele length
AssemblyAllele length
hg383902
hg193902
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6239543, essv6307594, essv5486958, essv5879158, essv6320569, essv5504631, essv5600447, essv5631108, essv5913803, essv6596320, essv6035440, essv6448836, essv6568990, essv6231465, essv5514336, essv5406937, essv5878535, essv6520699, essv5908155, essv5871580, essv5959023
SamplesHG00114, NA19648, HG00231, NA12286, NA20508, NA12004, NA20541, HG00106, HG00262, HG00118, HG01183, HG00245, HG00275, NA19654, HG00321, HG00126, NA20799, NA20334, HG00123, NA12006, HG01191
Known GenesTMEM123
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2677610
Frequency
Sample Size1151
Observed Gain0
Observed Loss21
Observed Complex0
Frequencyn/a


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