A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3581397



Internal ID7052779
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:9113354..9113354hg38UCSC Ensembl
chr2:9253483..9253483hg19UCSC Ensembl
chr2:9170934..9170934hg18UCSC Ensembl
Cytoband2p25.1
Allele length
AssemblyAllele length
hg38120
hg19120
hg18120
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1009102
Supporting Variants
SamplesHuRef
Known Genes
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3581397
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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