A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12111002



Internal ID2995909
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:156838778..156896964hg38UCSC Ensembl
chr5:156265789..156323975hg19UCSC Ensembl
Cytoband5q33.3
Allele length
AssemblyAllele length
hg3858187
hg1958187
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3607301
Supporting Variants
SamplesHG02645
Known GenesPPP1R2P3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12111002
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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