A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13750490



Internal ID6318168
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:32708945..32719956hg38UCSC Ensembl
Innerchr10:32709095..32719806hg38UCSC Ensembl
Outerchr10:32708795..32720106hg38UCSC Ensembl
chr10:32997873..33008884hg19UCSC Ensembl
Innerchr10:32998023..33008734hg19UCSC Ensembl
Outerchr10:32997723..33009034hg19UCSC Ensembl
Cytoband10p11.22
Allele length
AssemblyAllele length
hg3811012
hg1911012
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3622838
Supporting Variants
SamplesNA19917
Known GenesCCDC7
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13750490
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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