A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv621e214



Internal ID20122044
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:63635738..63656397hg38UCSC Ensembl
chr18:61302972..61323631hg19UCSC Ensembl
Cytoband18q21.33
Allele length
AssemblyAllele length
hg3820660
hg1920660
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3642775, esv3642776
SamplesNA18977, HG03078, HG03367
Known GenesSERPINB3, SERPINB4
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)dgv621e214
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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