A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4330710



Internal ID11613248
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:143213620..143213677hg38UCSC Ensembl
chr8:144295495..144295552hg19UCSC Ensembl
chr8:144366870..144366927hg18UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg3858
hg1958
hg1858
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1226398
Supporting Variants
SamplesHuRef
Known GenesGPIHBP1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv4330710
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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