A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4110590



Internal ID11651285
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:36144640..36144811hg38UCSC Ensembl
chr21:37516938..37517109hg19UCSC Ensembl
chr21:36438808..36438979hg18UCSC Ensembl
Cytoband21q22.12
Allele length
AssemblyAllele length
hg38172
hg19172
hg18172
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1434184
Supporting Variants
SamplesHuRef
Known GenesCBR3, CBR3-AS1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv4110590
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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