A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11394764



Internal ID556294
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:36159957..36172463hg38UCSC Ensembl
chr4:36161579..36174085hg19UCSC Ensembl
Cytoband4p14
Allele length
AssemblyAllele length
hg3812507
hg1912507
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3600220
Supporting Variants
SamplesHG00243
Known GenesARAP2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11394764
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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