A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12875060



Internal ID4552420
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:84166913..84211224hg38UCSC Ensembl
Innerchr7:84166913..84211224hg38UCSC Ensembl
Outerchr7:84166413..84211724hg38UCSC Ensembl
chr7:83796229..83840540hg19UCSC Ensembl
Innerchr7:83796229..83840540hg19UCSC Ensembl
Outerchr7:83795729..83841040hg19UCSC Ensembl
Cytoband7q21.11
Allele length
AssemblyAllele length
hg3844312
hg1944312
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3613958
Supporting Variants
SamplesHG04054
Known GenesSEMA3A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12875060
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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