A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3603034



Internal ID6990066
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:166187743..166192760hg38UCSC Ensembl
Innerchr4:166187774..166192730hg38UCSC Ensembl
Outerchr4:166187713..166192791hg38UCSC Ensembl
chr4:167108895..167113912hg19UCSC Ensembl
Innerchr4:167108926..167113882hg19UCSC Ensembl
Outerchr4:167108865..167113943hg19UCSC Ensembl
Cytoband4q32.3
Allele length
AssemblyAllele length
hg385018
hg195018
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11682504, essv11682499, essv11682513, essv11682505, essv11682494, essv11682496, essv11682514, essv11682498, essv11682502, essv11682511, essv11682506, essv11682507, essv11682497, essv11682515, essv11682495, essv11682500, essv11682508, essv11682512, essv11682509, essv11682501, essv11682503, essv11682510
SamplesNA12399, NA20822, HG00346, HG00369, HG01668, HG00262, HG01767, HG00182, HG00323, NA12777, HG00282, NA12342, HG01612, HG01615, HG00336, HG00278, NA12874, NA12749, HG00267, HG01085, NA12830, HG01378
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3603034
Frequency
Sample Size2504
Observed Gain0
Observed Loss22
Observed Complex0
Frequencyn/a


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