A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3970247



Internal ID11444939
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:42258011..42258207hg38UCSC Ensembl
chr21:43678121..43678317hg19UCSC Ensembl
chr21:42551190..42551386hg18UCSC 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 Variantsesv1717658
Supporting Variants
SamplesHuRef
Known GenesABCG1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv3970247
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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