A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4130878



Internal ID11066731
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:111544944..111545114hg38UCSC Ensembl
chr1:112087566..112087736hg19UCSC Ensembl
chr1:111889089..111889259hg18UCSC Ensembl
Cytoband1p13.2
Allele length
AssemblyAllele length
hg38171
hg19171
hg18171
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1773706
Supporting Variants
SamplesHuRef
Known GenesADORA3
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv4130878
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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