A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3602534



Internal ID6642791
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:144075474..144133907hg38UCSC Ensembl
chr4:144996627..145055060hg19UCSC Ensembl
Cytoband4q31.21
Allele length
AssemblyAllele length
hg3858434
hg1958434
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11638161, essv11638176, essv11638160, essv11638167, essv11638156, essv11638174, essv11638168, essv11638158, essv11638162, essv11638157, essv11638166, essv11638159, essv11638172, essv11638171, essv11638155, essv11638165, essv11638163, essv11638175, essv11638173, essv11638170, essv11638169, essv11638164
SamplesNA12249, HG02250, NA18605, HG03729, NA18994, HG00651, NA18625, HG04038, HG02554, HG00692, HG02356, NA18593, HG03919, HG02147, NA18552, HG02491, HG00717, HG01804, HG02798, HG03837, HG00622, HG02064
Known GenesGYPA
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3602534
Frequency
Sample Size2504
Observed Gain22
Observed Loss0
Observed Complex0
Frequencyn/a


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