A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12674639



Internal ID1753859
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:7405861..7444211hg38UCSC Ensembl
chr7:7445492..7483842hg19UCSC Ensembl
Cytoband7p21.3
Allele length
AssemblyAllele length
hg3838351
hg1938351
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3612080
Supporting Variants
SamplesHG01618
Known GenesCOL28A1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12674639
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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