A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3614250



Internal ID6654457
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:98199080..98215546hg38UCSC Ensembl
chr7:97828392..97844858hg19UCSC Ensembl
Cytoband7q21.3
Allele length
AssemblyAllele length
hg3816467
hg1916467
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12905046, essv12905047, essv12905049, essv12905048
SamplesHG03780, HG04162, HG02775, HG03692
Known GenesBHLHA15, LMTK2, TECPR1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3614250
Frequency
Sample Size2504
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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