A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6550943



Internal ID8817836
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:28821998..28823204hg38UCSC Ensembl
Outerchr17:28821627..28823574hg38UCSC Ensembl
Innerchr17:27149016..27150222hg19UCSC Ensembl
Outerchr17:27148645..27150592hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg381948
hg191948
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2656935
Supporting Variants
SamplesHG00260
Known GenesFAM222B
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6550943
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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