A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4339740



Internal ID11275592
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:37823949..37823949hg38UCSC Ensembl
chr21:39196251..39196251hg19UCSC Ensembl
chr21:38118121..38118121hg18UCSC Ensembl
Cytoband21q22.13
Allele length
AssemblyAllele length
hg3887
hg1987
hg1887
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1461344
Supporting Variants
SamplesHuRef
Known GenesKCNJ6
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv4339740
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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