A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1730n106



Internal ID20161087
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:19147209..19147515hg38UCSC Ensembl
chr19:19258018..19258324hg19UCSC Ensembl
Cytoband19p13.11
Allele length
AssemblyAllele length
hg38307
hg19307
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1135524, nsv1126446, nsv1129972
SamplesKWS2, KWS1
Known GenesMEF2B, MEF2BNB-MEF2B
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)dgv1730n106
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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