A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2670382



Internal ID9936487
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:11930178..12035230hg38UCSC Ensembl
chr8:11787687..11892739hg19UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38105053
hg19105053
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1269e199
Supporting Variantsessv5924658, essv6228331, essv5583918, essv5788695, essv6204613, essv5836541, essv6367341, essv5562263, essv6577842
SamplesHG00737, HG01354, HG00247, HG00583, HG00463, NA18634, HG01204, NA12272, NA19074
Known GenesDEFB134, DEFB135, DEFB136
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2670382
Frequency
Sample Size1151
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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