A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4082342



Internal ID11332847
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:38508035..38508035hg38UCSC Ensembl
chr21:39879959..39879959hg19UCSC Ensembl
chr21:38801829..38801829hg18UCSC Ensembl
Cytoband21q22.2
Allele length
AssemblyAllele length
hg38449
hg19449
hg18449
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1290531
Supporting Variants
SamplesHuRef
Known GenesERG
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv4082342
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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