A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3344122



Internal ID14844389
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 StatusM
Merged Variants
Supporting Variantsessv8693490
SamplesNA19239
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3344122
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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