A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9765487



Internal ID18393047
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:143239084..143240261hg38UCSC Ensembl
Outerchr5:143238847..143240362hg38UCSC Ensembl
Innerchr5:142618649..142619826hg19UCSC Ensembl
Outerchr5:142618412..142619927hg19UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg381516
hg191516
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3566740
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)essv9765487
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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