A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3393135



Internal ID15240100
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:127863108..127865906hg38UCSC Ensembl
Innerchr2:127864108..127864906hg38UCSC Ensembl
Outerchr2:127862108..127866906hg38UCSC Ensembl
chr2:128620682..128623480hg19UCSC Ensembl
Innerchr2:128621682..128622480hg19UCSC Ensembl
Outerchr2:128619682..128624480hg19UCSC Ensembl
chr2:128337152..128339950hg18UCSC Ensembl
Innerchr2:128338152..128338950hg18UCSC Ensembl
Outerchr2:128336152..128340950hg18UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg382799
hg192799
hg182799
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8693413
SamplesNA19239
Known GenesAMMECR1L
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3393135
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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