A curated catalogue of human genomic structural variation




Variant Details

Variant: esv990609



Internal ID7076740
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:131785029..131785177hg38UCSC Ensembl
chr5:131120722..131120870hg19UCSC Ensembl
chr5:131148621..131148769hg18UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg38149
hg19149
hg18149
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3577138
SamplesHuRef
Known GenesFNIP1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv990609
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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