A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3566414



Internal ID6691110
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 StateHeterozygous
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1006875
Supporting Variants
SamplesHuRef
Known GenesMEF2C
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3566414
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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