A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1005597



Internal ID7070692
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:240574866..240575820hg38UCSC Ensembl
chr1:240738166..240739120hg19UCSC Ensembl
chr1:238804789..238805743hg18UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg38955
hg19955
hg18955
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3579016
SamplesHuRef
Known GenesGREM2
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1005597
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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