A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1065e214



Internal ID22756959
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:1000756..1054628hg38UCSC Ensembl
chr5:1000871..1054743hg19UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg3853873
hg1953873
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3603793, esv3603791
SamplesHG03040, NA19108
Known GenesNKD2, SLC12A7
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)dgv1065e214
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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