A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12692862



Internal ID4491065
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:19881559..19888217hg38UCSC Ensembl
Innerchr7:19882059..19887717hg38UCSC Ensembl
Outerchr7:19880559..19889217hg38UCSC Ensembl
chr7:19921182..19927840hg19UCSC Ensembl
Innerchr7:19921682..19927340hg19UCSC Ensembl
Outerchr7:19920182..19928840hg19UCSC Ensembl
Cytoband7p21.1
Allele length
AssemblyAllele length
hg386659
hg196659
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3612475
Supporting Variants
SamplesHG03991
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12692862
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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