A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7766669



Internal ID13604915
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:181015997..181015998hg38UCSC Ensembl
Innerchr2:181015975..181016020hg38UCSC Ensembl
Outerchr2:181015974..181016021hg38UCSC Ensembl
chr2:181880724..181880725hg19UCSC Ensembl
Innerchr2:181880702..181880747hg19UCSC Ensembl
Outerchr2:181880701..181880748hg19UCSC Ensembl
chr2:181588969..181588970hg18UCSC Ensembl
Innerchr2:181588992..181588947hg18UCSC Ensembl
Outerchr2:181588946..181588993hg18UCSC Ensembl
Cytoband2q31.3
Allele length
AssemblyAllele length
hg38300
hg19300
hg18300
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3306526
Supporting Variants
SamplesNA12814
Known GenesUBE2E3
MethodSequencing
Analysis
PlatformRoche 454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7766669
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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