A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3850n106



Internal ID20163207
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:78687698..78687790hg38UCSC Ensembl
chr8:79599933..79600025hg19UCSC Ensembl
Cytoband8q21.12
Allele length
AssemblyAllele length
hg3893
hg1993
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1137379, nsv1132155
SamplesKWS2, KWS1
Known GenesZC2HC1A
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)dgv3850n106
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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