A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12674622



Internal ID2537122
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:7288774..7395834hg38UCSC Ensembl
chr7:7328405..7435465hg19UCSC Ensembl
Cytoband7p21.3
Allele length
AssemblyAllele length
hg38107061
hg19107061
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3612073
Supporting Variants
SamplesHG02255
Known GenesCOL28A1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12674622
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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