A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3395438



Internal ID15242402
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:156804723..156804742hg38UCSC Ensembl
Innerchr2:156804719..156804746hg38UCSC Ensembl
Outerchr2:156804700..156804765hg38UCSC Ensembl
chr2:157661235..157661254hg19UCSC Ensembl
Innerchr2:157661231..157661258hg19UCSC Ensembl
Outerchr2:157661212..157661277hg19UCSC Ensembl
chr2:157369481..157369500hg18UCSC Ensembl
Innerchr2:157369504..157369477hg18UCSC Ensembl
Outerchr2:157369458..157369523hg18UCSC Ensembl
Cytoband2q24.1
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 Variantsessv9605090
SamplesNA19143
Known Genes
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3395438
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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