A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2658071



Internal ID9577490
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:81003938..81020641hg38UCSC Ensembl
Outerchr17:81003901..81020691hg38UCSC Ensembl
Innerchr17:78977738..78994441hg19UCSC Ensembl
Outerchr17:78977701..78994491hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg3816791
hg1916791
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5535194, essv6577042
SamplesHG00531, HG00476
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2658071
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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