A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1010948



Internal ID6723039
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:64250719..64258173hg38UCSC Ensembl
Outerchr2:64477853..64485307hg19UCSC Ensembl
Outerchr2:64331357..64338811hg18UCSC Ensembl
Cytoband2p14
Allele length
AssemblyAllele length
hg387455
hg197455
hg187455
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3564608
SamplesHuRef
Known Genes
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1010948
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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