A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11026199



Internal ID2395429
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:61833732..61870619hg38UCSC Ensembl
chr3:61819406..61856293hg19UCSC Ensembl
Cytoband3p14.2
Allele length
AssemblyAllele length
hg3836888
hg1936888
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3596362
Supporting Variants
SamplesHG02127
Known GenesPTPRG
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11026199
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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