A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3599596



Internal ID6639860
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:9862076..9864330hg38UCSC Ensembl
Innerchr4:9862076..9864330hg38UCSC Ensembl
Outerchr4:9861808..9864668hg38UCSC Ensembl
chr4:9863700..9865954hg19UCSC Ensembl
Innerchr4:9863700..9865954hg19UCSC Ensembl
Outerchr4:9863432..9866292hg19UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg382255
hg192255
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11352451, essv11352467, essv11352448, essv11352465, essv11352458, essv11352457, essv11352464, essv11352456, essv11352466, essv11352459, essv11352461, essv11352446, essv11352452, essv11352463, essv11352455, essv11352460, essv11352449, essv11352462, essv11352450, essv11352454, essv11352453, essv11352447, essv11352445
SamplesHG02284, HG03304, HG01885, HG03189, HG01051, HG03212, HG03401, HG02323, NA19467, NA19239, NA19247, HG02573, HG03297, HG02819, NA18909, HG02645, HG03259, NA19399, HG01058, HG02476, NA19916, HG02642, HG02095
Known GenesSLC2A9
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3599596
Frequency
Sample Size2504
Observed Gain0
Observed Loss23
Observed Complex0
Frequencyn/a


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