A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11026134



Internal ID5461678
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:61592016..61645388hg38UCSC Ensembl
Innerchr3:61592166..61645238hg38UCSC Ensembl
Outerchr3:61591866..61645538hg38UCSC Ensembl
chr3:61577690..61631062hg19UCSC Ensembl
Innerchr3:61577840..61630912hg19UCSC Ensembl
Outerchr3:61577540..61631212hg19UCSC Ensembl
Cytoband3p14.2
Allele length
AssemblyAllele length
hg3853373
hg1953373
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3596345
Supporting Variants
SamplesNA18969
Known GenesPTPRG
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11026134
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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