A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12508952



Internal ID2510768
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:114276386..114316359hg38UCSC Ensembl
chr6:114597550..114637523hg19UCSC Ensembl
Cytoband6q21
Allele length
AssemblyAllele length
hg3839974
hg1939974
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3610428
Supporting Variants
SamplesNA19092
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12508952
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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