A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5997129



Internal ID8905042
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:32148591..32153455hg38UCSC Ensembl
Outerchr17:32148554..32153505hg38UCSC Ensembl
Innerchr17:30475610..30480474hg19UCSC Ensembl
Outerchr17:30475573..30480524hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg384952
hg194952
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2669243
Supporting Variants
SamplesHG00367
Known GenesARGFXP2, RHOT1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5997129
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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