A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8696041



Internal ID15096891
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:73427586..73428884hg38UCSC Ensembl
Innerchr7:73427884..73428586hg38UCSC Ensembl
Outerchr7:73426586..73429884hg38UCSC Ensembl
chr7:72841916..72843214hg19UCSC Ensembl
Innerchr7:72842214..72842916hg19UCSC Ensembl
Outerchr7:72840916..72844214hg19UCSC Ensembl
chr7:72479852..72481150hg18UCSC Ensembl
Innerchr7:72480852..72480150hg18UCSC Ensembl
Outerchr7:72478852..72482150hg18UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg381299
hg191299
hg181299
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3426530
Supporting Variants
SamplesNA19240
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8696041
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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