A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7811637



Internal ID12914838
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:191281661..191281662hg38UCSC Ensembl
Innerchr3:191281644..191281679hg38UCSC Ensembl
Outerchr3:191281643..191281680hg38UCSC Ensembl
chr3:190999450..190999451hg19UCSC Ensembl
Innerchr3:190999433..190999468hg19UCSC Ensembl
Outerchr3:190999432..190999469hg19UCSC Ensembl
chr3:192482144..192482145hg18UCSC Ensembl
Innerchr3:192482162..192482127hg18UCSC Ensembl
Outerchr3:192482126..192482163hg18UCSC Ensembl
Cytoband3q28
Allele length
AssemblyAllele length
hg38294
hg19294
hg18294
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3304195
Supporting Variants
SamplesNA11994
Known GenesUTS2B
MethodSequencing
Analysis
PlatformRoche 454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7811637
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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