A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3606957



Internal ID6647199
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:140836164..140842460hg38UCSC Ensembl
chr5:140215749..140222045hg19UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg386297
hg196297
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12077028, essv12077033, essv12077031, essv12077034, essv12077036, essv12077032, essv12077030, essv12077029, essv12077035
SamplesNA19028, NA19374, NA20299, HG03476, HG02089, HG03259, HG03565, HG03258, HG00180
Known GenesPCDHA1, PCDHA2, PCDHA3, PCDHA4, PCDHA5, PCDHA6, PCDHA7, PCDHA8
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3606957
Frequency
Sample Size2504
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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