A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2673014



Internal ID9592433
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:80849273..80849458hg38UCSC Ensembl
chr7:80478589..80478774hg19UCSC Ensembl
Cytoband7q21.11
Allele length
AssemblyAllele length
hg38186
hg19186
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5894761, essv6501192, essv6030299, essv5453104, essv5711246, essv6108233, essv6480438, essv5673691, essv5585259
SamplesHG00501, HG00346, HG00512, HG00427, HG00268, NA18564, HG00707, NA18609, NA18622
Known GenesSEMA3C
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2673014
Frequency
Sample Size1151
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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