A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1336135



Internal ID12152571
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:19147213..19147487hg38UCSC Ensembl
chr19:19258022..19258296hg19UCSC Ensembl
chr19:19119022..19119296hg18UCSC Ensembl
Cytoband19p13.11
Allele length
AssemblyAllele length
hg38275
hg19275
hg18275
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4119562
SamplesHuRef
Known GenesMEF2B, MEF2BNB-MEF2B
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1336135
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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