A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3585677



Internal ID6710373
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:1212689..1212689hg38UCSC Ensembl
chr10:1258629..1258629hg19UCSC Ensembl
chr10:1248629..1248629hg18UCSC Ensembl
Cytoband10p15.3
Allele length
AssemblyAllele length
hg3888
hg1988
hg1888
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv988420
Supporting Variants
SamplesHuRef
Known GenesADARB2
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3585677
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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