A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8695783



Internal ID15054899
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 Flag1
Merged StatusS
Merged Variantsesv3377235
Supporting Variants
SamplesNA19239
Known GenesPOLR2J4
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8695783
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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