A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1005212



Internal ID6717333
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:44506901..44520002hg38UCSC Ensembl
Outerchr1:44972573..44985674hg19UCSC Ensembl
Outerchr1:44745160..44758261hg18UCSC Ensembl
Cytoband1p34.1
Allele length
AssemblyAllele length
hg3813102
hg1913102
hg1813102
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3565520
SamplesHuRef
Known GenesRNF220
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1005212
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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