A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2247n106



Internal ID20161604
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:36862897..36863997hg38UCSC Ensembl
chr20:35491300..35492400hg19UCSC Ensembl
Cytoband20q11.23
Allele length
AssemblyAllele length
hg381101
hg191101
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1118913, nsv1122031
SamplesKWS1, KWS2
Known GenesSOGA1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)dgv2247n106
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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