A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2666696



Internal ID9932801
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:81849398..81853449hg38UCSC Ensembl
Outerchr17:81849361..81853499hg38UCSC Ensembl
Innerchr17:79807274..79811325hg19UCSC Ensembl
Outerchr17:79807237..79811375hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg384139
hg194139
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5457940
SamplesHG01489
Known GenesP4HB
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2666696
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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