A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11526919



Internal ID1528735
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:86625025..86702001hg38UCSC Ensembl
chr4:87546178..87623154hg19UCSC Ensembl
Cytoband4q21.3
Allele length
AssemblyAllele length
hg3876977
hg1976977
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3601260
Supporting Variants
SamplesNA20534
Known GenesPTPN13
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11526919
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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