A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1254e214



Internal ID22757148
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:7405861..7445476hg38UCSC Ensembl
chr7:7445492..7485107hg19UCSC Ensembl
Cytoband7p21.3
Allele length
AssemblyAllele length
hg3839616
hg1939616
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3612082, esv3612080
SamplesHG01618
Known GenesCOL28A1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)dgv1254e214
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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