A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4192307



Internal ID11128159
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:37677790..37677790hg38UCSC Ensembl
chr21:39050092..39050092hg19UCSC Ensembl
chr21:37971962..37971962hg18UCSC Ensembl
Cytoband21q22.13
Allele length
AssemblyAllele length
hg3880
hg1980
hg1880
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1076046
Supporting Variants
SamplesHuRef
Known GenesKCNJ6
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv4192307
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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