A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3600295



Internal ID6987339
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:39969586..39971244hg38UCSC Ensembl
Innerchr4:39969586..39971244hg38UCSC Ensembl
Outerchr4:39969304..39971477hg38UCSC Ensembl
chr4:39971206..39972864hg19UCSC Ensembl
Innerchr4:39971206..39972864hg19UCSC Ensembl
Outerchr4:39970924..39973097hg19UCSC Ensembl
Cytoband4p14
Allele length
AssemblyAllele length
hg381659
hg191659
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11401428, essv11401447, essv11401456, essv11401444, essv11401432, essv11401446, essv11401429, essv11401430, essv11401451, essv11401421, essv11401453, essv11401422, essv11401433, essv11401441, essv11401435, essv11401427, essv11401437, essv11401443, essv11401449, essv11401431, essv11401455, essv11401452, essv11401423, essv11401426, essv11401445, essv11401454, essv11401439, essv11401448, essv11401450, essv11401434, essv11401425, essv11401424, essv11401438, essv11401442, essv11401440, essv11401436
SamplesHG03484, HG03378, HG03175, HG03111, HG03517, NA19819, HG03069, HG03074, NA19171, HG03436, NA19916, HG01083, HG02922, NA19922, HG02561, HG03268, HG02819, NA19247, HG03363, HG02582, HG03547, NA18915, HG02968, NA18907, HG03388, HG03078, HG03571, HG02666, NA19035, HG03117, NA19310, NA19360, NA19713, HG02768, HG02051, HG01883
Known GenesPDS5A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3600295
Frequency
Sample Size2504
Observed Gain0
Observed Loss36
Observed Complex0
Frequencyn/a


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