A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3586344



Internal ID6626657
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:69858478..69864694hg38UCSC Ensembl
Innerchr1:69858484..69864688hg38UCSC Ensembl
Outerchr1:69858472..69864700hg38UCSC Ensembl
chr1:70324161..70330377hg19UCSC Ensembl
Innerchr1:70324167..70330371hg19UCSC Ensembl
Outerchr1:70324155..70330383hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg386217
hg196217
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9963912
SamplesHG03114
Known GenesLRRC7
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3586344
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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