A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8819897



Internal ID15094796
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:78847267..78847267hg38UCSC Ensembl
Innerchr17:78847266..78847268hg38UCSC Ensembl
Outerchr17:78847207..78847317hg38UCSC Ensembl
chr17:76843349..76843349hg19UCSC Ensembl
Innerchr17:76843348..76843350hg19UCSC Ensembl
Outerchr17:76843289..76843399hg19UCSC Ensembl
chr17:74354944..74354944hg18UCSC Ensembl
Innerchr17:74354945..74354943hg18UCSC Ensembl
Outerchr17:74354884..74354994hg18UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg3861
hg1961
hg1861
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv3357964
Supporting Variants
SamplesNA19240
Known Genes
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8819897
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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