A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3302490



Internal ID14802751
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:89285673..89285877hg38UCSC Ensembl
Innerchr7:89285773..89285777hg38UCSC Ensembl
Outerchr7:89285573..89285977hg38UCSC Ensembl
chr7:88914987..88915191hg19UCSC Ensembl
Innerchr7:88915087..88915091hg19UCSC Ensembl
Outerchr7:88914887..88915291hg19UCSC Ensembl
chr7:88752923..88753127hg18UCSC Ensembl
Innerchr7:88753023..88753027hg18UCSC Ensembl
Outerchr7:88752823..88753227hg18UCSC Ensembl
Cytoband7q21.13
Allele length
AssemblyAllele length
hg38205
hg19205
hg18205
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7731314, essv7731532
SamplesNA19239, NA19240
Known GenesZNF804B
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3302490
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer