A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9595657



Internal ID13258878
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:93908920..93908939hg38UCSC Ensembl
Innerchr1:93908916..93908943hg38UCSC Ensembl
Outerchr1:93908897..93908962hg38UCSC Ensembl
chr1:94374476..94374495hg19UCSC Ensembl
Innerchr1:94374472..94374499hg19UCSC Ensembl
Outerchr1:94374453..94374518hg19UCSC Ensembl
chr1:94147064..94147083hg18UCSC Ensembl
Innerchr1:94147087..94147060hg18UCSC Ensembl
Outerchr1:94147041..94147106hg18UCSC Ensembl
Cytoband1p22.1
Allele length
AssemblyAllele length
hg386000
hg196000
hg186000
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3435342
Supporting Variants
SamplesNA12814
Known GenesGCLM
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv9595657
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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