A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12674637



Internal ID1753871
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:7405182..7488496hg38UCSC Ensembl
chr7:7444813..7528127hg19UCSC Ensembl
Cytoband7p21.3
Allele length
AssemblyAllele length
hg3883315
hg1983315
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3612078
Supporting Variants
SamplesHG01618
Known GenesCOL28A1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12674637
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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