A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3768n106



Internal ID20163125
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:8892990..8893690hg38UCSC Ensembl
chr8:8750500..8751200hg19UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38701
hg19701
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1119166, nsv1137608
SamplesKWS2, KWS1
Known GenesMFHAS1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)dgv3768n106
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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