A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2672440



Internal ID9938545
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:50232086..50241413hg38UCSC Ensembl
Outerchr17:50231893..50241566hg38UCSC Ensembl
Innerchr17:48309447..48318774hg19UCSC Ensembl
Outerchr17:48309254..48318927hg19UCSC Ensembl
Cytoband17q21.33
Allele length
AssemblyAllele length
hg389674
hg199674
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv553e199
Supporting Variantsessv6370068, essv5498288
SamplesNA20508, HG01067
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2672440
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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