A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11526916



Internal ID1528732
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:86557520..86614379hg38UCSC Ensembl
chr4:87478673..87535532hg19UCSC Ensembl
Cytoband4q21.3
Allele length
AssemblyAllele length
hg3856860
hg1956860
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3601257
Supporting Variants
SamplesNA18526
Known GenesPTPN13
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11526916
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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