A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1149e214



Internal ID20122572
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:157276007..157280334hg38UCSC Ensembl
chr5:156703017..156707344hg19UCSC Ensembl
Cytoband5q33.3
Allele length
AssemblyAllele length
hg384328
hg194328
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3607314, esv3607312
SamplesHG03603, HG03985
Known GenesCYFIP2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)dgv1149e214
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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