A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1739252



Internal ID12555684
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:88747327..88747655hg38UCSC Ensembl
chr5:88043144..88043472hg19UCSC Ensembl
chr5:88078900..88079228hg18UCSC Ensembl
Cytoband5q14.3
Allele length
AssemblyAllele length
hg38329
hg19329
hg18329
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4047974
SamplesHuRef
Known GenesMEF2C
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1739252
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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