A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13156572



Internal ID3158388
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:32440011..32443792hg38UCSC Ensembl
chr8:32297527..32301308hg19UCSC Ensembl
Cytoband8p12
Allele length
AssemblyAllele length
hg383782
hg193782
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3616810
Supporting Variants
SamplesHG03788
Known GenesNRG1, NRG1-IT3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13156572
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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