A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3609037



Internal ID6649269
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:53801751..53805860hg38UCSC Ensembl
Innerchr6:53801751..53805860hg38UCSC Ensembl
Outerchr6:53801500..53806119hg38UCSC Ensembl
chr6:53666549..53670658hg19UCSC Ensembl
Innerchr6:53666549..53670658hg19UCSC Ensembl
Outerchr6:53666298..53670917hg19UCSC Ensembl
Cytoband6p12.1
Allele length
AssemblyAllele length
hg384110
hg194110
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12358401
SamplesHG01810
Known GenesLRRC1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3609037
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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