A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12668480



Internal ID1514410
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:2455590..2468078hg38UCSC Ensembl
Innerchr7:2455590..2468078hg38UCSC Ensembl
Outerchr7:2455279..2468397hg38UCSC Ensembl
chr7:2495225..2507713hg19UCSC Ensembl
Innerchr7:2495225..2507713hg19UCSC Ensembl
Outerchr7:2494914..2508032hg19UCSC Ensembl
Cytoband7p22.3
Allele length
AssemblyAllele length
hg3812489
hg1912489
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3611843
Supporting Variants
SamplesHG01392
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12668480
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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