A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv261e214



Internal ID20121684
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:24216938..24224767hg38UCSC Ensembl
chr12:24369872..24377701hg19UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg387830
hg197830
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3628860, esv3628859
SamplesHG02697
Known GenesSOX5
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)dgv261e214
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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