A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6239504



Internal ID9235665
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:29273273..29275203hg38UCSC Ensembl
Outerchr17:29273236..29275253hg38UCSC Ensembl
Innerchr17:27600291..27602221hg19UCSC Ensembl
Outerchr17:27600254..27602271hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg382018
hg192018
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2671407
Supporting Variants
SamplesNA11932
Known GenesNUFIP2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6239504
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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