A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3614249



Internal ID6654456
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:98199080..98215546hg38UCSC Ensembl
chr7:97828392..97844858hg19UCSC Ensembl
Cytoband7q21.3
Allele length
AssemblyAllele length
hg3816467
hg1916467
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12905045
SamplesNA18630
Known GenesBHLHA15, LMTK2, TECPR1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3614249
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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