A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3602562



Internal ID6989595
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:145526551..145527901hg38UCSC Ensembl
Innerchr4:145526556..145527897hg38UCSC Ensembl
Outerchr4:145526547..145527906hg38UCSC Ensembl
chr4:146447703..146449053hg19UCSC Ensembl
Innerchr4:146447708..146449049hg19UCSC Ensembl
Outerchr4:146447699..146449058hg19UCSC Ensembl
Cytoband4q31.21
Allele length
AssemblyAllele length
hg381351
hg191351
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11642120, essv11642107, essv11642104, essv11642121, essv11642124, essv11642114, essv11642130, essv11642125, essv11642115, essv11642116, essv11642109, essv11642108, essv11642097, essv11642099, essv11642123, essv11642133, essv11642122, essv11642098, essv11642103, essv11642100, essv11642111, essv11642110, essv11642102, essv11642105, essv11642101, essv11642112, essv11642126, essv11642117, essv11642118, essv11642131, essv11642129, essv11642132, essv11642113, essv11642106, essv11642128, essv11642119, essv11642127
SamplesHG00626, HG00592, HG01965, HG02272, HG01303, NA19795, HG00699, NA19777, NA18988, HG00589, HG02383, HG00458, HG00451, NA18964, NA18949, HG00632, HG01813, NA18638, HG01565, HG02136, HG01871, HG00653, HG00436, HG01102, HG00704, HG02286, HG02031, NA19090, HG01342, HG00614, NA19716, HG01302, HG01817, HG00728, NA18968, HG01923, HG00553
Known GenesSMAD1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3602562
Frequency
Sample Size2504
Observed Gain0
Observed Loss37
Observed Complex0
Frequencyn/a


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