A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1010e214



Internal ID20122433
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:81014179..81031200hg38UCSC Ensembl
chr4:81935333..81952354hg19UCSC Ensembl
Cytoband4q21.21
Allele length
AssemblyAllele length
hg3817022
hg1917022
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3601145, esv3601146
SamplesHG00864, HG02116, HG04194, HG01810, HG04162
Known GenesBMP3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)dgv1010e214
Frequency
Sample Size2504
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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