A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3606959



Internal ID6993894
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:140895084..140905109hg38UCSC Ensembl
chr5:140274669..140284694hg19UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg3810026
hg1910026
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12077312, essv12077313, essv12077311
SamplesNA20819, NA07056, HG00171
Known GenesPCDHA1, PCDHA10, PCDHA11, PCDHA12, PCDHA13, PCDHA2, PCDHA3, PCDHA4, PCDHA5, PCDHA6, PCDHA7, PCDHA8, PCDHA9
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3606959
Frequency
Sample Size2504
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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