A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6506566



Internal ID9270340
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:77241225..77241479hg38UCSC Ensembl
chr7:76870542..76870796hg19UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg38255
hg19255
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2675079
Supporting Variants
SamplesNA12383
Known GenesCCDC146
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6506566
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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