A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7760070



Internal ID13784887
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:160573723..160573724hg38UCSC Ensembl
Innerchr2:160573684..160573763hg38UCSC Ensembl
Outerchr2:160573683..160573764hg38UCSC Ensembl
chr2:161430234..161430235hg19UCSC Ensembl
Innerchr2:161430195..161430274hg19UCSC Ensembl
Outerchr2:161430194..161430275hg19UCSC Ensembl
chr2:161138480..161138481hg18UCSC Ensembl
Innerchr2:161138520..161138441hg18UCSC Ensembl
Outerchr2:161138440..161138521hg18UCSC Ensembl
Cytoband2q24.2
Allele length
AssemblyAllele length
hg38279
hg19279
hg18279
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3306175
Supporting Variants
SamplesNA18501
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7760070
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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