A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5714111



Internal ID8691514
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:150935078..150939582hg38UCSC Ensembl
chr1:150907554..150912058hg19UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg384505
hg194505
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2661989
Supporting Variants
SamplesNA19681
Known GenesSETDB1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5714111
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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