A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4026239



Internal ID11735635
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:45051723..45051935hg38UCSC Ensembl
chr17:43129091..43129303hg19UCSC Ensembl
chr17:40484617..40484829hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38213
hg19213
hg18213
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1217416
Supporting Variants
SamplesHuRef
Known GenesDCAKD
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv4026239
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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