A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12973640



Internal ID4336423
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:133938404..134255658hg38UCSC Ensembl
chr7:133623157..133940410hg19UCSC Ensembl
Cytoband7q33
Allele length
AssemblyAllele length
hg38317255
hg19317254
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3615082
Supporting Variants
SamplesHG03875
Known GenesEXOC4, LRGUK
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12973640
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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