A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12998409



Internal ID748883
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:147406479..147445294hg38UCSC Ensembl
chr7:147103571..147142386hg19UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg3838816
hg1938816
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3615396
Supporting Variants
SamplesHG00353
Known GenesCNTNAP2, MIR548I4
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12998409
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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