A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5643225



Internal ID9554679
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:70548061..70548844hg38UCSC Ensembl
chr7:70013047..70013830hg19UCSC Ensembl
Cytoband7q11.22
Allele length
AssemblyAllele length
hg38784
hg19784
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2664680
Supporting Variants
SamplesNA19085
Known GenesAUTS2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5643225
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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