A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2671702



Internal ID9591121
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:76627908..76633289hg38UCSC Ensembl
Outerchr17:76627871..76633339hg38UCSC Ensembl
Innerchr17:74623990..74629371hg19UCSC Ensembl
Outerchr17:74623953..74629421hg19UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg385469
hg195469
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5547752
SamplesHG00421
Known GenesST6GALNAC1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2671702
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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