A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1004677



Internal ID6716800
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:226976139..226976218hg38UCSC Ensembl
chr1:227163840..227163919hg19UCSC Ensembl
chr1:225230463..225230542hg18UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg3880
hg1980
hg1880
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3576201
SamplesHuRef
Known GenesADCK3
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1004677
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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