A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12188415



Internal ID950113
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:10636529..10639023hg38UCSC Ensembl
Innerchr6:10636567..10638986hg38UCSC Ensembl
Outerchr6:10636492..10639061hg38UCSC Ensembl
chr6:10636762..10639256hg19UCSC Ensembl
Innerchr6:10636800..10639219hg19UCSC Ensembl
Outerchr6:10636725..10639294hg19UCSC Ensembl
Cytoband6p24.2
Allele length
AssemblyAllele length
hg382495
hg192495
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3608080
Supporting Variants
SamplesHG00583
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12188415
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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