A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1007597



Internal ID6719710
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3571992
SamplesHuRef
Known GenesSLC34A1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1007597
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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