A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3581603



Internal ID7052986
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:55586271..55586271hg38UCSC Ensembl
chr20:54161329..54161329hg19UCSC Ensembl
chr20:53594736..53594736hg18UCSC Ensembl
Cytoband20q13.2
Allele length
AssemblyAllele length
hg38153
hg19153
hg18153
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv992349
Supporting Variants
SamplesHuRef
Known Genes
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3581603
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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