A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4047974



Internal ID11367214
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 StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1739252
Supporting Variants
SamplesHuRef
Known GenesMEF2C
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv4047974
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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