A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3603791



Internal ID6990822
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 Variantsdgv1065e214
Supporting Variantsessv11774081, essv11774082
SamplesHG03040, NA19108
Known GenesNKD2, SLC12A7
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3603791
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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