A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9765458



Internal ID18739704
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 StatusS
Merged Variantsesv3566711
Supporting Variants
Samples
Known GenesMATR3
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)essv9765458
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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