A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6550821



Internal ID9867549
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:40532142..40533164hg38UCSC Ensembl
Outerchr17:40532105..40533214hg38UCSC Ensembl
Innerchr17:38688394..38689416hg19UCSC Ensembl
Outerchr17:38688357..38689466hg19UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg381110
hg191110
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2675491
Supporting Variants
SamplesNA20539
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6550821
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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