A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13204341



Internal ID371965
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:55864913..55911860hg38UCSC Ensembl
chr8:56777472..56824419hg19UCSC Ensembl
Cytoband8q12.1
Allele length
AssemblyAllele length
hg3846948
hg1946948
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3617285
Supporting Variants
SamplesHG00107
Known GenesLYN
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13204341
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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