A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12905045



Internal ID2906861
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3614249
Supporting Variants
SamplesNA18630
Known GenesBHLHA15, LMTK2, TECPR1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12905045
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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