A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3580235



Internal ID6704931
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:165347932..165348016hg38UCSC Ensembl
chr1:165317169..165317253hg19UCSC Ensembl
chr1:163583793..163583877hg18UCSC Ensembl
Cytoband1q23.3
Allele length
AssemblyAllele length
hg3885
hg1985
hg1885
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1005410
Supporting Variants
SamplesHuRef
Known GenesLMX1A
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3580235
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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