A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3576405



Internal ID6701101
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:63239689..63242478hg38UCSC Ensembl
chr1:63705360..63708149hg19UCSC Ensembl
chr1:63477948..63480737hg18UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg382790
hg192790
hg182790
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1000281
Supporting Variants
SamplesHuRef
Known GenesLINC00466
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3576405
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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