A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3600463



Internal ID6987506
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:48346767..48347251hg38UCSC Ensembl
Innerchr4:48346774..48347245hg38UCSC Ensembl
Outerchr4:48346761..48347258hg38UCSC Ensembl
chr4:48348784..48349268hg19UCSC Ensembl
Innerchr4:48348791..48349262hg19UCSC Ensembl
Outerchr4:48348778..48349275hg19UCSC Ensembl
Cytoband4p11
Allele length
AssemblyAllele length
hg38485
hg19485
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11429480, essv11429498, essv11429479, essv11429495, essv11429488, essv11429489, essv11429494, essv11429487, essv11429496, essv11429486, essv11429485, essv11429482, essv11429497, essv11429484, essv11429500, essv11429501, essv11429499, essv11429491, essv11429478, essv11429481, essv11429493, essv11429483, essv11429490, essv11429492
SamplesNA18877, HG03521, HG03515, HG03139, HG03460, NA19719, NA19137, HG03195, NA18867, HG02334, HG02511, HG02450, HG01241, HG03571, HG03109, HG02557, NA19256, NA19473, HG03117, NA19310, HG01342, NA19102, HG01886, HG03118
Known GenesSLAIN2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3600463
Frequency
Sample Size2504
Observed Gain0
Observed Loss24
Observed Complex0
Frequencyn/a


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