A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2161n106



Internal ID20161518
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:226152841..226153091hg38UCSC Ensembl
chr2:227017557..227017807hg19UCSC Ensembl
Cytoband2q36.3
Allele length
AssemblyAllele length
hg38251
hg19251
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1145176, nsv1135110, nsv1130426
SamplesKWS2, KWS1
Known GenesLOC646736
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)dgv2161n106
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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