A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3406252



Internal ID15253214
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:78643147..78643159hg38UCSC Ensembl
Innerchr1:78643143..78643161hg38UCSC Ensembl
Outerchr1:78643131..78643173hg38UCSC Ensembl
chr1:79108832..79108844hg19UCSC Ensembl
Innerchr1:79108828..79108846hg19UCSC Ensembl
Outerchr1:79108816..79108858hg19UCSC Ensembl
chr1:78881420..78881432hg18UCSC Ensembl
Innerchr1:78881434..78881416hg18UCSC Ensembl
Outerchr1:78881404..78881446hg18UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg38101
hg19101
hg18101
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8899642, essv8899641, essv8899634, essv8899648, essv8899640, essv8899643, essv8899635, essv8899646, essv8899639, essv8899651, essv8899645, essv8899644, essv8899650, essv8899649, essv8899638, essv8899637
SamplesNA18980, NA18561, NA12004, NA18959, NA18558, NA11918, NA18582, NA18537, NA18566, NA18555, NA18542, NA11881, NA18961, NA07037, NA12006, NA12776
Known GenesIFI44L
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3406252
Frequency
Sample Size185
Observed Gain16
Observed Loss0
Observed Complex0
Frequencyn/a


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