A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3077n106



Internal ID20162434
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:42628198..42630998hg38UCSC Ensembl
chr5:42628300..42631100hg19UCSC Ensembl
Cytoband5p12
Allele length
AssemblyAllele length
hg382801
hg192801
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1112873, nsv1145059
SamplesKWS1, KWS2
Known GenesGHR
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)dgv3077n106
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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