A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5676222



Internal ID8653625
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:7217115..7217221hg38UCSC Ensembl
Outerchr16:7216744..7217591hg38UCSC Ensembl
Innerchr16:7267116..7267222hg19UCSC Ensembl
Outerchr16:7266745..7267592hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg38848
hg19848
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2674369
Supporting Variants
SamplesNA19057
Known GenesRBFOX1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5676222
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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