A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1688400



Internal ID12851518
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:42555139..42555188hg38UCSC Ensembl
chr4:42557156..42557205hg19UCSC Ensembl
chr4:42251913..42251962hg18UCSC Ensembl
Cytoband4p13
Allele length
AssemblyAllele length
hg3850
hg1950
hg1850
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4122872
SamplesHuRef
Known GenesATP8A1, MIR548M
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1688400
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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