A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12861223



Internal ID2863039
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:80403509..80470340hg38UCSC Ensembl
Innerchr7:80403509..80470340hg38UCSC Ensembl
Outerchr7:80403009..80470840hg38UCSC Ensembl
chr7:80032825..80099656hg19UCSC Ensembl
Innerchr7:80032825..80099656hg19UCSC Ensembl
Outerchr7:80032325..80100156hg19UCSC Ensembl
Cytoband7q21.11
Allele length
AssemblyAllele length
hg3866832
hg1966832
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3613859
Supporting Variants
SamplesHG02658
Known GenesGNAT3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12861223
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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