A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10079289



Internal ID81105
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:114587471..114614453hg38UCSC Ensembl
chr1:115130092..115157074hg19UCSC Ensembl
Cytoband1p13.2
Allele length
AssemblyAllele length
hg3826983
hg1926983
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3587266
Supporting Variants
SamplesNA18523
Known GenesDENND2C
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10079289
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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