A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3608809



Internal ID6649042
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:42973447..42975681hg38UCSC Ensembl
Innerchr6:42973485..42975644hg38UCSC Ensembl
Outerchr6:42973410..42975719hg38UCSC Ensembl
chr6:42941185..42943419hg19UCSC Ensembl
Innerchr6:42941223..42943382hg19UCSC Ensembl
Outerchr6:42941148..42943457hg19UCSC Ensembl
Cytoband6p21.1
Allele length
AssemblyAllele length
hg382235
hg192235
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12329481
SamplesHG01880
Known GenesPEX6
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3608809
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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