A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3608982



Internal ID6649215
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:51700213..51702650hg38UCSC Ensembl
Innerchr6:51700259..51702604hg38UCSC Ensembl
Outerchr6:51700167..51702696hg38UCSC Ensembl
chr6:51565011..51567448hg19UCSC Ensembl
Innerchr6:51565057..51567402hg19UCSC Ensembl
Outerchr6:51564965..51567494hg19UCSC Ensembl
Cytoband6p12.3
Allele length
AssemblyAllele length
hg382438
hg192438
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12346975
SamplesHG02348
Known GenesPKHD1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3608982
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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