A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8693490



Internal ID14726409
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:217989584..217991082hg38UCSC Ensembl
Innerchr2:217990082..217990584hg38UCSC Ensembl
Outerchr2:217988584..217992082hg38UCSC Ensembl
chr2:218854307..218855805hg19UCSC Ensembl
Innerchr2:218854805..218855307hg19UCSC Ensembl
Outerchr2:218853307..218856805hg19UCSC Ensembl
chr2:218562552..218564050hg18UCSC Ensembl
Innerchr2:218563552..218563050hg18UCSC Ensembl
Outerchr2:218561552..218565050hg18UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg381499
hg191499
hg181499
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3344122
Supporting Variants
SamplesNA19239
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8693490
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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