A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3970034



Internal ID11445152
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:37685535..37685535hg38UCSC Ensembl
chr21:39057838..39057838hg19UCSC Ensembl
chr21:37979708..37979708hg18UCSC Ensembl
Cytoband21q22.13
Allele length
AssemblyAllele length
hg38321
hg19321
hg18321
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1561266
Supporting Variants
SamplesHuRef
Known GenesKCNJ6
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv3970034
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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