A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5400992



Internal ID8378395
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:67678276..67744856hg38UCSC Ensembl
Outerchr9:67677906..67745225hg38UCSC Ensembl
Innerchr9:46344116..46409222hg19UCSC Ensembl
Outerchr9:46343745..46409592hg19UCSC Ensembl
Cytoband9p11.2
Allele length
AssemblyAllele length
hg3867320
hg1965848
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag0
Merged StatusS
Merged Variantsesv2663411
Supporting Variants
SamplesHG00479
Known GenesFAM27E1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5400992
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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