A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3571992



Internal ID6696688
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:177396456..177396644hg38UCSC Ensembl
chr5:176823457..176823645hg19UCSC Ensembl
chr5:176756063..176756251hg18UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg38189
hg19189
hg18189
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1007597
Supporting Variants
SamplesHuRef
Known GenesSLC34A1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3571992
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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