A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12910123



Internal ID569489
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:101393021..101417463hg38UCSC Ensembl
chr7:101036302..101060744hg19UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg3824443
hg1924443
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3614333
Supporting Variants
SamplesHG00251
Known GenesCOL26A1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12910123
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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