A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12993233



Internal ID2556420
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:143846505..143863500hg38UCSC Ensembl
chr7:143543598..143560593hg19UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg3816996
hg1916996
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3615309
Supporting Variants
SamplesHG02271
Known GenesFAM115A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12993233
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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