A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12505919



Internal ID1679231
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:113323981..113328966hg38UCSC Ensembl
chr6:113645183..113650168hg19UCSC Ensembl
Cytoband6q21
Allele length
AssemblyAllele length
hg384986
hg194986
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3610411
Supporting Variants
SamplesHG01550
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12505919
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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