A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9603946



Internal ID14911028
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:128038325..128038344hg38UCSC Ensembl
Innerchr2:128038321..128038348hg38UCSC Ensembl
Outerchr2:128038302..128038367hg38UCSC Ensembl
chr2:128795899..128795918hg19UCSC Ensembl
Innerchr2:128795895..128795922hg19UCSC Ensembl
Outerchr2:128795876..128795941hg19UCSC Ensembl
chr2:128512369..128512388hg18UCSC Ensembl
Innerchr2:128512392..128512365hg18UCSC Ensembl
Outerchr2:128512346..128512411hg18UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg38300
hg19300
hg18300
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3378842
Supporting Variants
SamplesNA19141
Known Genes
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv9603946
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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