A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1007136



Internal ID7072229
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:10398619..10399777hg38UCSC Ensembl
Outerchr2:10538745..10539903hg19UCSC Ensembl
Outerchr2:10456196..10457354hg18UCSC Ensembl
Cytoband2p25.1
Allele length
AssemblyAllele length
hg383546
hg193546
hg183546
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3565116
SamplesHuRef
Known GenesHPCAL1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1007136
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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