A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3566711



Internal ID18767787
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:139323497..139325146hg38UCSC Ensembl
Outerchr5:139322945..139325903hg38UCSC Ensembl
Innerchr5:138659186..138660835hg19UCSC Ensembl
Outerchr5:138658634..138661592hg19UCSC Ensembl
Cytoband5q31.2
Allele length
AssemblyAllele length
hg382959
hg192959
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9765458
Samples
Known GenesMATR3
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3566711
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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