A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10253823



Internal ID2244569
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:197694174..197765658hg38UCSC Ensembl
chr1:197663304..197734788hg19UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg3871485
hg1971485
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3588504
Supporting Variants
SamplesHG02012
Known GenesDENND1B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10253823
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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