A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1505561



Internal ID12321997
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:1095214..1095391hg38UCSC Ensembl
chr4:1089002..1089179hg19UCSC Ensembl
chr4:1079002..1079179hg18UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg38178
hg19178
hg18178
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4310093
SamplesHuRef
Known GenesRNF212
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1505561
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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