A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1310421



Internal ID12126858
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:165347933..165348018hg38UCSC Ensembl
chr1:165317170..165317255hg19UCSC Ensembl
chr1:163583794..163583879hg18UCSC Ensembl
Cytoband1q23.3
Allele length
AssemblyAllele length
hg3886
hg1986
hg1886
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3646110
SamplesHuRef
Known GenesLMX1A
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1310421
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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