A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2661094



Internal ID9580513
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:17683112..17683369hg38UCSC Ensembl
chr1:18009607..18009864hg19UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg38258
hg19258
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6560865, essv6341178, essv6318610, essv5897210, essv5885133, essv6494099, essv5491675, essv6161024, essv5742045, essv6421116, essv5400854, essv6402872, essv6233303, essv6431843, essv6336514, essv5878829, essv6285990, essv6146675, essv5654483, essv6444158, essv6531610, essv6279593, essv6127850, essv6529968, essv6464162, essv5494918, essv6426380, essv6504484, essv5959897, essv5922399, essv5495308, essv5818974, essv6259537, essv5656296, essv6283282, essv5942546, essv6078925, essv5693568, essv6487250, essv6459527, essv5849927, essv5719322, essv6041365, essv5471448, essv5408908, essv6054663, essv6422733, essv5834010, essv5867182, essv6144540
SamplesHG01441, NA18486, HG00699, NA18596, NA18633, HG00693, NA19374, HG01250, HG00127, HG00251, NA19762, HG01351, HG00702, HG01365, HG00334, NA20291, HG01067, HG01440, HG00108, HG00313, NA18544, HG00443, NA19403, HG00344, HG00275, HG00708, NA18548, HG00284, HG01073, HG00250, HG00531, HG00479, HG00331, HG00124, HG00285, HG00580, HG00237, NA19360, HG00418, NA19398, HG00707, HG00111, HG00656, HG00342, HG00698, HG00280, HG00343, NA18612, HG01437, HG01061
Known GenesARHGEF10L
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2661094
Frequency
Sample Size1151
Observed Gain0
Observed Loss50
Observed Complex0
Frequencyn/a


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