A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2671862



Internal ID9937967
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:33563948..33564266hg38UCSC Ensembl
chr18:31143912..31144230hg19UCSC Ensembl
Cytoband18q12.1
Allele length
AssemblyAllele length
hg38319
hg19319
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6383122, essv5887216, essv6323419, essv6278566, essv6058187, essv5817260, essv6197961, essv6468337, essv5977944, essv5845914, essv5454201, essv5478004, essv6190477, essv5507488, essv6565392, essv6498436, essv6462147, essv5492446, essv6491895, essv6229422, essv5684043, essv5944659, essv5940543, essv5659352, essv6443394, essv6416274, essv5540425, essv5890283, essv5807922, essv5945419, essv6358021, essv6125633, essv5919423, essv6248697, essv6591451, essv6108670, essv5579263, essv6485873, essv6335480, essv6100483, essv5918030, essv6120031, essv5892765, essv6060315, essv5578728, essv6353193, essv5815253, essv6206776, essv5770266, essv5558579, essv5914575, essv6059625, essv5541392, essv6146655, essv6211011, essv5641922, essv5874653, essv5954219, essv5826667, essv5707962, essv5779939, essv5490199, essv6273424, essv5453159, essv6259559, essv5749015, essv5570894, essv5892813, essv6384567
SamplesNA18502, NA19909, NA18947, NA19204, NA18508, NA19704, NA20802, NA18486, NA19355, NA19819, NA19190, NA19098, HG01051, NA20356, NA12155, NA12813, NA18967, NA19171, NA18940, NA18489, NA19119, NA19131, NA11918, NA19457, NA19138, NA19904, NA19404, NA19917, NA19372, NA19207, NA19159, NA18520, NA19200, NA19210, HG01187, NA19403, NA19391, NA19455, NA18516, NA18976, NA18948, NA18981, NA18907, NA18856, NA18555, NA19469, NA19160, NA19395, NA18858, NA18974, NA18953, NA19440, NA18909, NA19108, NA19147, NA18517, HG01108, NA19360, NA06994, NA19093, NA19102, NA19213, NA18972, NA18505, NA19129, NA18511, NA07000, NA19346, NA19153
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2671862
Frequency
Sample Size1151
Observed Gain0
Observed Loss69
Observed Complex0
Frequencyn/a


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