A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12171619



Internal ID2330163
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:748249..867752hg38UCSC Ensembl
chr6:748249..867752hg19UCSC Ensembl
Cytoband6p25.3
Allele length
AssemblyAllele length
hg38119504
hg19119504
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3607864
Supporting Variants
SamplesHG02073
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12171619
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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