A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1477078



Internal ID12640200
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:174068826..174068879hg38UCSC Ensembl
chr5:173495829..173495882hg19UCSC Ensembl
chr5:173428435..173428488hg18UCSC Ensembl
Cytoband5q35.2
Allele length
AssemblyAllele length
hg3854
hg1954
hg1854
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4355431
SamplesHuRef
Known GenesHMP19
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1477078
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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