A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1010343



Internal ID6722433
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:156822277..156825107hg38UCSC Ensembl
Outerchr1:156792069..156794899hg19UCSC Ensembl
Outerchr1:155058693..155061523hg18UCSC Ensembl
Cytoband1q23.1
Allele length
AssemblyAllele length
hg382831
hg192831
hg182831
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3563618
SamplesHuRef
Known GenesNTRK1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1010343
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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