A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3573233



Internal ID7044615
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:156836741..156836792hg38UCSC Ensembl
chr1:156806533..156806584hg19UCSC Ensembl
chr1:155073157..155073208hg18UCSC Ensembl
Cytoband1q23.1
Allele length
AssemblyAllele length
hg3852
hg1952
hg1852
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1001917
Supporting Variants
SamplesHuRef
Known GenesNTRK1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3573233
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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