A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3586348



Internal ID6626661
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:69959047..69963350hg38UCSC Ensembl
chr1:70424730..70429033hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg384304
hg194304
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9964082, essv9964080, essv9964078, essv9964077, essv9964081, essv9964079, essv9964076
SamplesNA18591, NA18618, NA18990, NA18539, NA18525, HG00513, NA18983
Known GenesLRRC7
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3586348
Frequency
Sample Size2504
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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