A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12890681



Internal ID4770139
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:92850756..92877622hg38UCSC Ensembl
Innerchr7:92850765..92877613hg38UCSC Ensembl
Outerchr7:92850747..92877631hg38UCSC Ensembl
chr7:92480070..92506936hg19UCSC Ensembl
Innerchr7:92480079..92506927hg19UCSC Ensembl
Outerchr7:92480061..92506945hg19UCSC Ensembl
Cytoband7q21.2
Allele length
AssemblyAllele length
hg3826867
hg1926867
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3614150
Supporting Variants
SamplesNA11840
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12890681
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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