A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12077032



Internal ID2078848
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3606957
Supporting Variants
SamplesHG03476
Known GenesPCDHA1, PCDHA2, PCDHA3, PCDHA4, PCDHA5, PCDHA6, PCDHA7, PCDHA8
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12077032
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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