A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3398004



Internal ID15244967
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:7127870..7128468hg38UCSC Ensembl
Innerchr2:7127869..7128469hg38UCSC Ensembl
Outerchr2:7126870..7129468hg38UCSC Ensembl
chr2:7268001..7268599hg19UCSC Ensembl
Innerchr2:7268000..7268600hg19UCSC Ensembl
Outerchr2:7267001..7269599hg19UCSC Ensembl
chr2:7185452..7186050hg18UCSC Ensembl
Innerchr2:7186051..7185451hg18UCSC Ensembl
Outerchr2:7184452..7187050hg18UCSC Ensembl
Cytoband2p25.1
Allele length
AssemblyAllele length
hg38599
hg19599
hg18599
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8693689
SamplesNA19238
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3398004
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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