A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3576201



Internal ID6700897
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 StateHomozygous
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1004677
Supporting Variants
SamplesHuRef
Known GenesADCK3
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3576201
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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