A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1049510



Internal ID11865949
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:88736212..88736542hg38UCSC Ensembl
chr5:88032029..88032359hg19UCSC Ensembl
chr5:88067785..88068115hg18UCSC Ensembl
Cytoband5q14.3
Allele length
AssemblyAllele length
hg38331
hg19331
hg18331
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3764800
SamplesHuRef
Known GenesMEF2C
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1049510
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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