A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12897849



Internal ID3330859
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:94343667..94347735hg38UCSC Ensembl
Innerchr7:94343667..94347735hg38UCSC Ensembl
Outerchr7:94343558..94348014hg38UCSC Ensembl
chr7:93972979..93977047hg19UCSC Ensembl
Innerchr7:93972979..93977047hg19UCSC Ensembl
Outerchr7:93972870..93977326hg19UCSC Ensembl
Cytoband7q21.3
Allele length
AssemblyAllele length
hg384069
hg194069
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3614181
Supporting Variants
SamplesHG02974
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12897849
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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