A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13848633



Internal ID3850449
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:67789569..67799780hg38UCSC Ensembl
Innerchr10:67789569..67799780hg38UCSC Ensembl
Outerchr10:67789476..67800004hg38UCSC Ensembl
chr10:69549327..69559538hg19UCSC Ensembl
Innerchr10:69549327..69559538hg19UCSC Ensembl
Outerchr10:69549234..69559762hg19UCSC Ensembl
Cytoband10q21.3
Allele length
AssemblyAllele length
hg3810212
hg1910212
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3623695
Supporting Variants
SamplesNA19064
Known GenesDNAJC12
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13848633
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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