A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3399053



Internal ID14899330
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:44239117..44239136hg38UCSC Ensembl
Innerchr1:44239113..44239140hg38UCSC Ensembl
Outerchr1:44239094..44239159hg38UCSC Ensembl
chr1:44704789..44704808hg19UCSC Ensembl
Innerchr1:44704785..44704812hg19UCSC Ensembl
Outerchr1:44704766..44704831hg19UCSC Ensembl
chr1:44477376..44477395hg18UCSC Ensembl
Innerchr1:44477399..44477372hg18UCSC Ensembl
Outerchr1:44477353..44477418hg18UCSC Ensembl
Cytoband1p34.1
Allele length
AssemblyAllele length
hg386000
hg196000
hg186000
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9594079
SamplesNA11840
Known GenesERI3
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3399053
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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