A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3603379



Internal ID6990411
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:180348927..180353333hg38UCSC Ensembl
chr4:181270080..181274486hg19UCSC Ensembl
Cytoband4q34.3
Allele length
AssemblyAllele length
hg384407
hg194407
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11727948, essv11727957, essv11727962, essv11727944, essv11727965, essv11727966, essv11727961, essv11727954, essv11727952, essv11727947, essv11727941, essv11727946, essv11727939, essv11727942, essv11727953, essv11727945, essv11727963, essv11727949, essv11727950, essv11727958, essv11727960, essv11727959, essv11727943, essv11727937, essv11727955, essv11727940, essv11727951, essv11727964, essv11727956, essv11727938
SamplesNA18502, NA19914, NA19378, NA19197, HG03040, HG02315, NA19235, NA19207, HG03270, HG03120, HG03088, NA19175, HG03081, HG03476, HG02484, HG03240, HG02759, HG01915, HG03458, NA19331, NA19380, NA19144, NA19334, HG03433, HG03108, HG03066, NA20334, NA19713, HG03072, HG02808
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3603379
Frequency
Sample Size2504
Observed Gain30
Observed Loss0
Observed Complex0
Frequencyn/a


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