A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3587598



Internal ID6627899
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:154108469..154112184hg38UCSC Ensembl
Innerchr1:154108469..154112184hg38UCSC Ensembl
Outerchr1:154108103..154112606hg38UCSC Ensembl
chr1:154080945..154084660hg19UCSC Ensembl
Innerchr1:154080945..154084660hg19UCSC Ensembl
Outerchr1:154080579..154085082hg19UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg383716
hg193716
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10151510, essv10151496, essv10151463, essv10151521, essv10151468, essv10151495, essv10151517, essv10151535, essv10151508, essv10151461, essv10151494, essv10151506, essv10151473, essv10151488, essv10151513, essv10151454, essv10151534, essv10151520, essv10151523, essv10151474, essv10151470, essv10151499, essv10151515, essv10151505, essv10151487, essv10151475, essv10151459, essv10151492, essv10151502, essv10151457, essv10151509, essv10151455, essv10151467, essv10151484, essv10151516, essv10151511, essv10151489, essv10151525, essv10151526, essv10151529, essv10151518, essv10151466, essv10151482, essv10151485, essv10151490, essv10151507, essv10151531, essv10151472, essv10151491, essv10151504, essv10151462, essv10151503, essv10151514, essv10151528, essv10151481, essv10151519, essv10151483, essv10151458, essv10151524, essv10151478, essv10151456, essv10151493, essv10151479, essv10151497, essv10151498, essv10151460, essv10151480, essv10151477, essv10151501, essv10151476, essv10151530, essv10151465, essv10151469, essv10151471, essv10151464, essv10151522, essv10151533, essv10151532, essv10151527, essv10151486, essv10151500, essv10151512
SamplesNA18870, HG03121, NA18861, HG02330, NA19026, NA20278, NA19114, NA18874, HG03112, HG03055, NA19149, HG03313, NA20296, HG02943, HG03057, HG02946, HG03124, NA19338, HG02508, HG03298, NA18507, NA19017, NA19378, NA19257, NA19108, HG03380, NA19474, HG03268, HG03394, NA19308, NA19147, HG03159, NA19914, HG02981, NA18912, NA18934, NA18508, HG02009, NA19917, HG00638, HG02703, HG03442, HG03436, HG03464, HG03130, NA18916, NA19681, HG03079, NA19457, NA19042, NA19324, NA19190, HG03063, HG03195, NA19027, HG02461, HG03511, HG02938, NA18858, NA19347, HG03069, NA19131, HG02947, HG03446, HG03303, NA18915, NA19403, NA20289, NA19099, NA20317, NA19399, NA18499, HG02476, HG03077, HG03060, HG01985, NA19204, NA19113, NA19454, NA19200, HG03095, HG03082
Known GenesNUP210L
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3587598
Frequency
Sample Size2504
Observed Gain0
Observed Loss82
Observed Complex0
Frequencyn/a


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