A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5897032



Internal ID8874435
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:128499519..128999613hg38UCSC Ensembl
chr7:128139573..128639667hg19UCSC Ensembl
Cytoband7q32.1
Allele length
AssemblyAllele length
hg38500095
hg19500095
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2670312
Supporting Variants
SamplesNA12045
Known GenesATP6V1F, CALU, CCDC136, FAM71F1, FAM71F2, FLNC, IRF5, KCP, LINC01000, LOC100130705, METTL2B, OPN1SW, TNPO3
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5897032
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