A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8909174



Internal ID14813157
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:160573729..160573756hg38UCSC Ensembl
Innerchr2:160573728..160573757hg38UCSC Ensembl
Outerchr2:160573701..160573784hg38UCSC Ensembl
chr2:161430240..161430267hg19UCSC Ensembl
Innerchr2:161430239..161430268hg19UCSC Ensembl
Outerchr2:161430212..161430295hg19UCSC Ensembl
chr2:161138486..161138513hg18UCSC Ensembl
Innerchr2:161138514..161138485hg18UCSC Ensembl
Outerchr2:161138458..161138541hg18UCSC Ensembl
Cytoband2q24.2
Allele length
AssemblyAllele length
hg38279
hg19279
hg18279
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3345385
Supporting Variants
SamplesNA19093
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8909174
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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