A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4007424



Internal ID11407763
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:64239134..64239192hg38UCSC Ensembl
chr1:64704817..64704875hg19UCSC Ensembl
chr1:64477405..64477463hg18UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg3859
hg1959
hg1859
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1385597
Supporting Variants
SamplesHuRef
Known GenesUBE2U
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv4007424
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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