A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3360626



Internal ID15207605
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:41948727..41948746hg38UCSC Ensembl
Innerchr1:41948723..41948750hg38UCSC Ensembl
Outerchr1:41948704..41948769hg38UCSC Ensembl
chr1:42414398..42414417hg19UCSC Ensembl
Innerchr1:42414394..42414421hg19UCSC Ensembl
Outerchr1:42414375..42414440hg19UCSC Ensembl
chr1:42186985..42187004hg18UCSC Ensembl
Innerchr1:42187008..42186981hg18UCSC Ensembl
Outerchr1:42186962..42187027hg18UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg38300
hg19300
hg18300
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9594046
SamplesNA19141
Known GenesHIVEP3
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3360626
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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