A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13205996



Internal ID2483993
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:57729375..57733651hg38UCSC Ensembl
chr8:58641934..58646210hg19UCSC Ensembl
Cytoband8q12.1
Allele length
AssemblyAllele length
hg384277
hg194277
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3617325
Supporting Variants
SamplesHG02186
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13205996
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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