A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1006875



Internal ID6718990
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:88747321..88747648hg38UCSC Ensembl
chr5:88043138..88043465hg19UCSC Ensembl
chr5:88078894..88079221hg18UCSC Ensembl
Cytoband5q14.3
Allele length
AssemblyAllele length
hg38328
hg19328
hg18328
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3566414
SamplesHuRef
Known GenesMEF2C
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1006875
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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