A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12848041



Internal ID6468358
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:75710288..75726255hg38UCSC Ensembl
chr7:75339606..75355573hg19UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg3815968
hg1915968
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3613727
Supporting Variants
SamplesNA20519
Known GenesHIP1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12848041
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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