A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3617186



Internal ID7004072
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:50847818..50974129hg38UCSC Ensembl
chr8:51760378..51886689hg19UCSC Ensembl
Cytoband8q11.21
Allele length
AssemblyAllele length
hg38126312
hg19126312
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1398e214
Supporting Variantsessv13198148
SamplesNA12750
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3617186
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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