A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13946411



Internal ID3948227
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:116687516..116731008hg38UCSC Ensembl
chr10:118447027..118490519hg19UCSC Ensembl
Cytoband10q25.3
Allele length
AssemblyAllele length
hg3843493
hg1943493
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3624663
Supporting Variants
SamplesHG01747
Known GenesHSPA12A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13946411
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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