A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12657960



Internal ID610522
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:828603..846324hg38UCSC Ensembl
Innerchr7:828603..846324hg38UCSC Ensembl
Outerchr7:828103..846824hg38UCSC Ensembl
chr7:868240..885961hg19UCSC Ensembl
Innerchr7:868240..885961hg19UCSC Ensembl
Outerchr7:867740..886461hg19UCSC Ensembl
Cytoband7p22.3
Allele length
AssemblyAllele length
hg3817722
hg1917722
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3611790
Supporting Variants
SamplesHG00266
Known GenesSUN1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12657960
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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