A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3367770



Internal ID15214746
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:67659660..67659691hg38UCSC Ensembl
Innerchr2:67659662..67659689hg38UCSC Ensembl
Outerchr2:67659658..67659693hg38UCSC Ensembl
chr2:67886792..67886823hg19UCSC Ensembl
Innerchr2:67886794..67886821hg19UCSC Ensembl
Outerchr2:67886790..67886825hg19UCSC Ensembl
chr2:67740296..67740327hg18UCSC Ensembl
Innerchr2:67740298..67740325hg18UCSC Ensembl
Outerchr2:67740294..67740329hg18UCSC Ensembl
Cytoband2p14
Allele length
AssemblyAllele length
hg3854
hg1954
hg1854
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7863914
SamplesNA12005
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3367770
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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