A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3570069



Internal ID6694766
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:88736209..88736538hg38UCSC Ensembl
chr5:88032026..88032355hg19UCSC Ensembl
chr5:88067782..88068111hg18UCSC Ensembl
Cytoband5q14.3
Allele length
AssemblyAllele length
hg38330
hg19330
hg18330
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv993574
Supporting Variants
SamplesHuRef
Known GenesMEF2C
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3570069
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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