A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4328503



Internal ID11611041
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:212288..212919hg38UCSC Ensembl
chr5:212403..213034hg19UCSC Ensembl
chr5:265403..266034hg18UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg38632
hg19632
hg18632
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1179194
Supporting Variants
SamplesHuRef
Known GenesCCDC127
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv4328503
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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