A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3587528



Internal ID6627830
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:151451171..151453543hg38UCSC Ensembl
Innerchr1:151451172..151453543hg38UCSC Ensembl
Outerchr1:151451171..151453544hg38UCSC Ensembl
chr1:151423647..151426019hg19UCSC Ensembl
Innerchr1:151423648..151426019hg19UCSC Ensembl
Outerchr1:151423647..151426020hg19UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg382373
hg192373
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10145550, essv10145545, essv10145514, essv10145522, essv10145552, essv10145527, essv10145540, essv10145532, essv10145507, essv10145520, essv10145531, essv10145525, essv10145548, essv10145544, essv10145521, essv10145538, essv10145537, essv10145508, essv10145510, essv10145501, essv10145511, essv10145534, essv10145524, essv10145519, essv10145539, essv10145528, essv10145500, essv10145547, essv10145543, essv10145509, essv10145505, essv10145523, essv10145502, essv10145530, essv10145516, essv10145504, essv10145546, essv10145551, essv10145498, essv10145506, essv10145535, essv10145499, essv10145503, essv10145517, essv10145526, essv10145541, essv10145549, essv10145512, essv10145536, essv10145533, essv10145515, essv10145518, essv10145529, essv10145513, essv10145542
SamplesHG01459, HG01926, HG02291, HG02275, HG02272, HG02407, HG01277, NA19072, HG01935, HG01927, HG02260, HG01365, HG02105, HG02274, NA20314, HG01142, HG01843, HG01950, HG01968, HG02003, HG02397, NA19917, NA18622, HG01938, HG01572, HG00692, HG02090, HG02078, HG01443, HG01974, NA19725, HG00640, HG02285, HG02278, HG01967, HG01069, HG02266, HG02147, HG02364, HG00599, HG01921, HG02128, NA18995, HG01345, NA19764, NA18533, HG01804, HG01366, HG02089, HG01951, HG02271, HG01119, HG01462, HG01976, HG01980
Known GenesPOGZ
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3587528
Frequency
Sample Size2504
Observed Gain0
Observed Loss55
Observed Complex0
Frequencyn/a


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