A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2678272



Internal ID9944377
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:31941762..31943864hg38UCSC Ensembl
Outerchr17:31941725..31943914hg38UCSC Ensembl
Innerchr17:30268781..30270883hg19UCSC Ensembl
Outerchr17:30268744..30270933hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg382190
hg192190
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5955483, essv5523420
SamplesNA19396, NA19469
Known GenesSUZ12
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2678272
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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