A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8695446



Internal ID14672315
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:102657969..102662867hg38UCSC Ensembl
Innerchr7:102658969..102661867hg38UCSC Ensembl
Outerchr7:102656969..102663867hg38UCSC Ensembl
chr7:102298416..102303314hg19UCSC Ensembl
Innerchr7:102299416..102302314hg19UCSC Ensembl
Outerchr7:102297416..102304314hg19UCSC Ensembl
chr7:102085652..102090550hg18UCSC Ensembl
Innerchr7:102086652..102089550hg18UCSC Ensembl
Outerchr7:102084652..102091550hg18UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg384899
hg194899
hg184899
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3433090
Supporting Variants
SamplesNA19238
Known GenesPOLR2J2, POLR2J3, SPDYE2, SPDYE2B
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8695446
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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