A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3583014



Internal ID6707710
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:184967916..184968237hg38UCSC Ensembl
chr1:184937048..184937369hg19UCSC Ensembl
chr1:183203671..183203992hg18UCSC Ensembl
Cytoband1q25.3
Allele length
AssemblyAllele length
hg38322
hg19322
hg18322
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1001682
Supporting Variants
SamplesHuRef
Known GenesFAM129A
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3583014
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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