A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2676024



Internal ID9942129
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:5240086..5253199hg38UCSC Ensembl
Outerchr17:5240049..5253249hg38UCSC Ensembl
Innerchr17:5143381..5156494hg19UCSC Ensembl
Outerchr17:5143344..5156544hg19UCSC Ensembl
Cytoband17p13.2
Allele length
AssemblyAllele length
hg3813201
hg1913201
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv527e199
Supporting Variantsessv6122895
SamplesHG01489
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2676024
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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