A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8695441



Internal ID13353794
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:102638969..102641667hg38UCSC Ensembl
Innerchr7:102639969..102640667hg38UCSC Ensembl
Outerchr7:102637969..102642667hg38UCSC Ensembl
chr7:102279416..102282114hg19UCSC Ensembl
Innerchr7:102280416..102281114hg19UCSC Ensembl
Outerchr7:102278416..102283114hg19UCSC Ensembl
chr7:102066652..102069350hg18UCSC Ensembl
Innerchr7:102067652..102068350hg18UCSC Ensembl
Outerchr7:102065652..102070350hg18UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg382699
hg192699
hg182699
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv3413878
Supporting Variants
SamplesNA12891
Known GenesPOLR2J2, POLR2J3, UPK3BL
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8695441
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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