A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9611014



Internal ID12828817
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:108174465..108174484hg38UCSC Ensembl
Innerchr3:108174461..108174488hg38UCSC Ensembl
Outerchr3:108174442..108174507hg38UCSC Ensembl
chr3:107893312..107893331hg19UCSC Ensembl
Innerchr3:107893308..107893335hg19UCSC Ensembl
Outerchr3:107893289..107893354hg19UCSC Ensembl
chr3:109376002..109376021hg18UCSC Ensembl
Innerchr3:109376025..109375998hg18UCSC Ensembl
Outerchr3:109375979..109376044hg18UCSC Ensembl
Cytoband3q13.12
Allele length
AssemblyAllele length
hg38300
hg19300
hg18300
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3362137
Supporting Variants
SamplesNA11881
Known GenesIFT57
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv9611014
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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