A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3644441



Internal ID7031196
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:43044130..43105414hg38UCSC Ensembl
chr19:43548282..43609566hg19UCSC Ensembl
Cytoband19q13.31
Allele length
AssemblyAllele length
hg3861285
hg1961285
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16058940, essv16058949, essv16058995, essv16058964, essv16058967, essv16058965, essv16058974, essv16058976, essv16059000, essv16058939, essv16058963, essv16058977, essv16058937, essv16058981, essv16058941, essv16058968, essv16058950, essv16058994, essv16058966, essv16058971, essv16058952, essv16058989, essv16058946, essv16058938, essv16058956, essv16058993, essv16058960, essv16058973, essv16058980, essv16058943, essv16058953, essv16058945, essv16058959, essv16058951, essv16058985, essv16058979, essv16058947, essv16058972, essv16058996, essv16058942, essv16058957, essv16058997, essv16058986, essv16058999, essv16058990, essv16058982, essv16058955, essv16058975, essv16058969, essv16058998, essv16058983, essv16058991, essv16058954, essv16058962, essv16058978, essv16058988, essv16058944, essv16058970, essv16058958, essv16058961, essv16058984, essv16058992, essv16058948, essv16058987
SamplesHG03366, NA19664, HG03548, HG03717, NA18603, NA18528, NA19795, HG03298, NA19057, NA18606, NA20346, NA19792, HG04100, HG02811, NA19678, HG03342, HG02854, HG02054, HG03629, HG03594, HG02489, HG03968, NA19731, HG01369, NA18748, HG02178, HG01259, HG03585, HG03048, NA18605, HG03054, HG03786, HG01095, HG02511, HG00436, HG03159, HG03124, HG03021, HG00740, NA18537, NA19654, HG03730, HG00956, NA19761, HG02594, HG01596, HG01444, HG02684, NA18517, HG03708, HG02696, NA19783, HG03419, HG02019, HG03779, HG03432, NA21102, HG00656, HG04098, NA20826, HG03470, HG01125, HG01869, NA11832
Known GenesPSG2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3644441
Frequency
Sample Size2504
Observed Gain64
Observed Loss0
Observed Complex0
Frequencyn/a


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