A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3556674



Internal ID18757750
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:56600246..56600494hg38UCSC Ensembl
Outerchr19:56600182..56600529hg38UCSC Ensembl
Innerchr19:57111614..57111862hg19UCSC Ensembl
Outerchr19:57111550..57111897hg19UCSC Ensembl
Cytoband19q13.43
Allele length
AssemblyAllele length
hg38348
hg19348
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv231e215
Supporting Variantsessv9755421
Samples
Known GenesZNF71
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3556674
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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