A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12877421



Internal ID549063
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:85409362..85516197hg38UCSC Ensembl
chr7:85038678..85145513hg19UCSC Ensembl
Cytoband7q21.11
Allele length
AssemblyAllele length
hg38106836
hg19106836
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3613992
Supporting Variants
SamplesHG00239
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12877421
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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