A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3803590



Internal ID11611595
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:46170337..46170533hg38UCSC Ensembl
chr21:47590251..47590447hg19UCSC Ensembl
chr21:46414679..46414875hg18UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg38197
hg19197
hg18197
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1674225
Supporting Variants
SamplesHuRef
Known GenesSPATC1L
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv3803590
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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