A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8695782



Internal ID15054918
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:43968528..43974126hg38UCSC Ensembl
Innerchr7:43969528..43973126hg38UCSC Ensembl
Outerchr7:43967528..43975126hg38UCSC Ensembl
chr7:44008127..44013725hg19UCSC Ensembl
Innerchr7:44009127..44012725hg19UCSC Ensembl
Outerchr7:44007127..44014725hg19UCSC Ensembl
chr7:43974652..43980250hg18UCSC Ensembl
Innerchr7:43975652..43979250hg18UCSC Ensembl
Outerchr7:43973652..43981250hg18UCSC Ensembl
Cytoband7p13
Allele length
AssemblyAllele length
hg385599
hg195599
hg185599
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv3360848
Supporting Variants
SamplesNA19239
Known GenesPOLR2J4
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8695782
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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