A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5800260



Internal ID8777663
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:55400600..55402953hg38UCSC Ensembl
chr4:56266767..56269120hg19UCSC Ensembl
Cytoband4q12
Allele length
AssemblyAllele length
hg382354
hg192354
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2667161
Supporting Variants
SamplesNA19468
Known GenesTMEM165
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5800260
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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