A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13941207



Internal ID3943023
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:113581857..113745416hg38UCSC Ensembl
chr10:115341616..115505175hg19UCSC Ensembl
Cytoband10q25.3
Allele length
AssemblyAllele length
hg38163560
hg19163560
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3624603
Supporting Variants
SamplesHG01757
Known GenesCASP7, HABP2, NRAP
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13941207
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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