A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3571077



Internal ID7042459
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:211509..211955hg38UCSC Ensembl
chr5:211624..212070hg19UCSC Ensembl
chr5:264624..265070hg18UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg38447
hg19447
hg18447
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1005832
Supporting Variants
SamplesHuRef
Known GenesCCDC127
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3571077
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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