A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6327940



Internal ID9796542
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:102955237..102956387hg38UCSC Ensembl
Outerchr7:102955199..102956454hg38UCSC Ensembl
Innerchr7:102595684..102596834hg19UCSC Ensembl
Outerchr7:102595646..102596901hg19UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg381256
hg191256
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2657047
Supporting Variants
SamplesNA19818
Known GenesFBXL13
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6327940
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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