A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12871218



Internal ID6413339
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:83202792..83234885hg38UCSC Ensembl
Innerchr7:83202811..83234866hg38UCSC Ensembl
Outerchr7:83202773..83234904hg38UCSC Ensembl
chr7:82832108..82864201hg19UCSC Ensembl
Innerchr7:82832127..82864182hg19UCSC Ensembl
Outerchr7:82832089..82864220hg19UCSC Ensembl
Cytoband7q21.11
Allele length
AssemblyAllele length
hg3832094
hg1932094
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3613927
Supporting Variants
SamplesNA20359
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12871218
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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