A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3377235



Internal ID15224208
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:43980728..43984926hg38UCSC Ensembl
Innerchr7:43981728..43983926hg38UCSC Ensembl
Outerchr7:43979728..43985926hg38UCSC Ensembl
chr7:44020327..44024525hg19UCSC Ensembl
Innerchr7:44021327..44023525hg19UCSC Ensembl
Outerchr7:44019327..44025525hg19UCSC Ensembl
chr7:43986852..43991050hg18UCSC Ensembl
Innerchr7:43987852..43990050hg18UCSC Ensembl
Outerchr7:43985852..43992050hg18UCSC Ensembl
Cytoband7p13
Allele length
AssemblyAllele length
hg384199
hg194199
hg184199
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8695783
SamplesNA19239
Known GenesPOLR2J4
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3377235
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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