A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv282n106



Internal ID19018391
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:226978499..226978785hg38UCSC Ensembl
chr1:227166200..227166486hg19UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg38287
hg19287
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1134972, nsv1111857, nsv1119073
SamplesKWS1, KWS2
Known GenesADCK3
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)dgv282n106
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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