A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1140e214



Internal ID20122563
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:138400313..138409694hg38UCSC Ensembl
chr5:137736002..137745383hg19UCSC Ensembl
Cytoband5q31.2
Allele length
AssemblyAllele length
hg389382
hg199382
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3606921, esv3606922, esv3606923
SamplesNA20877, NA12399, NA12155, HG00641, HG00109, NA20541, HG00139, HG01699, NA11831, HG00188, NA20314, HG00320, HG00331, HG01613, HG01474, NA12778, HG01678, NA20815, HG02232, HG01933, HG02238, HG00342, HG00123, HG00112, HG00131, NA19900, HG00274, HG01976
Known GenesKDM3B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)dgv1140e214
Frequency
Sample Size2504
Observed Gain28
Observed Loss0
Observed Complex0
Frequencyn/a


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