A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1381725



Internal ID12198161
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:37707714..37707714hg38UCSC Ensembl
chr21:39080016..39080016hg19UCSC Ensembl
chr21:38001886..38001886hg18UCSC Ensembl
Cytoband21q22.13
Allele length
AssemblyAllele length
hg38290
hg19290
hg18290
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4074542
SamplesHuRef
Known GenesKCNJ6
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1381725
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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