A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7753536



Internal ID14829731
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:68178490..68178491hg38UCSC Ensembl
Innerchr2:68178459..68178522hg38UCSC Ensembl
Outerchr2:68178458..68178523hg38UCSC Ensembl
chr2:68405622..68405623hg19UCSC Ensembl
Innerchr2:68405591..68405654hg19UCSC Ensembl
Outerchr2:68405590..68405655hg19UCSC Ensembl
chr2:68259126..68259127hg18UCSC Ensembl
Innerchr2:68259158..68259095hg18UCSC Ensembl
Outerchr2:68259094..68259159hg18UCSC Ensembl
Cytoband2p14
Allele length
AssemblyAllele length
hg3858
hg1958
hg1858
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3303922
Supporting Variants
SamplesNA19099
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7753536
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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