A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv496e214



Internal ID22756390
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:23625158..23632845hg38UCSC Ensembl
chr16:23636479..23644166hg19UCSC Ensembl
Cytoband16p12.2
Allele length
AssemblyAllele length
hg387688
hg197688
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3638231, esv3638232
SamplesHG03857, NA20539, NA19917
Known GenesPALB2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)dgv496e214
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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