A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3606974



Internal ID6647216
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:141203379..141210938hg38UCSC Ensembl
chr5:140582952..140590510hg19UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg387560
hg197559
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12078710, essv12078708, essv12078705, essv12078704, essv12078707, essv12078706, essv12078709
SamplesHG02419, NA19437, HG03088, HG02582, HG03124, HG02837, NA18873
Known GenesPCDHB12
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3606974
Frequency
Sample Size2504
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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