A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8695439



Internal ID13353784
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:102608342..102637967hg38UCSC Ensembl
Innerchr7:102609342..102636965hg38UCSC Ensembl
Outerchr7:102607339..102638967hg38UCSC Ensembl
chr7:102248789..102278414hg19UCSC Ensembl
Innerchr7:102249789..102277412hg19UCSC Ensembl
Outerchr7:102247786..102279414hg19UCSC Ensembl
chr7:102035852..102065650hg18UCSC Ensembl
Innerchr7:102036852..102064650hg18UCSC Ensembl
Outerchr7:102034852..102066650hg18UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg3829626
hg1929626
hg1829799
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv3353259
Supporting Variants
SamplesNA12891
Known GenesPOLR2J2, POLR2J3, RASA4, RASA4B, UPK3BL
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8695439
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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