A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3122n106



Internal ID20162479
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:88736195..88736534hg38UCSC Ensembl
chr5:88032012..88032351hg19UCSC Ensembl
Cytoband5q14.3
Allele length
AssemblyAllele length
hg38340
hg19340
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1112423, nsv1116221, nsv1122961
SamplesKWS1, KWS2
Known GenesMEF2C
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)dgv3122n106
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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