A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11882006



Internal ID1883822
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:41473342..41576981hg38UCSC Ensembl
chr5:41473444..41577083hg19UCSC Ensembl
Cytoband5p13.1
Allele length
AssemblyAllele length
hg38103640
hg19103640
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3604845
Supporting Variants
SamplesNA12717
Known GenesPLCXD3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11882006
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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