A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv31e214



Internal ID18980206
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:85445227..85449726hg38UCSC Ensembl
chr1:85910910..85915409hg19UCSC Ensembl
Cytoband1p22.3
Allele length
AssemblyAllele length
hg384500
hg194500
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3586682, esv3586680
SamplesHG02184, NA19054, NA18959, NA18620, NA19058
Known GenesDDAH1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)dgv31e214
Frequency
Sample Size2504
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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