A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2671681



Internal ID9591100
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:44732979..44740915hg38UCSC Ensembl
Outerchr17:44732942..44740965hg38UCSC Ensembl
Innerchr17:42810347..42818283hg19UCSC Ensembl
Outerchr17:42810310..42818333hg19UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg388024
hg198024
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6165720
SamplesHG00707
Known GenesDBF4B
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2671681
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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