A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3601974



Internal ID6989009
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:119631594..119635232hg38UCSC Ensembl
Innerchr4:119632094..119634732hg38UCSC Ensembl
Outerchr4:119630594..119636232hg38UCSC Ensembl
chr4:120552749..120556387hg19UCSC Ensembl
Innerchr4:120553249..120555887hg19UCSC Ensembl
Outerchr4:120551749..120557387hg19UCSC Ensembl
Cytoband4q26
Allele length
AssemblyAllele length
hg383639
hg193639
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11585142, essv11585147, essv11585138, essv11585130, essv11585126, essv11585143, essv11585120, essv11585148, essv11585136, essv11585127, essv11585141, essv11585145, essv11585121, essv11585123, essv11585137, essv11585135, essv11585133, essv11585122, essv11585132, essv11585140, essv11585119, essv11585125, essv11585124, essv11585149, essv11585144, essv11585134, essv11585128, essv11585129, essv11585139, essv11585146, essv11585131
SamplesNA18502, HG01079, HG01326, HG03130, HG03100, HG00737, NA19443, HG03133, HG02620, NA18498, NA18868, HG02885, NA19385, HG02545, NA19445, HG02819, HG02977, HG01088, HG02537, NA19449, NA18912, HG02484, NA18909, NA19256, HG03437, HG01362, HG02837, NA19439, NA19472, NA18505, NA19153
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3601974
Frequency
Sample Size2504
Observed Gain0
Observed Loss31
Observed Complex0
Frequencyn/a


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