A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12932537



Internal ID660953
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:114732773..114739617hg38UCSC Ensembl
Innerchr7:114732820..114739571hg38UCSC Ensembl
Outerchr7:114732727..114739664hg38UCSC Ensembl
chr7:114372828..114379672hg19UCSC Ensembl
Innerchr7:114372875..114379626hg19UCSC Ensembl
Outerchr7:114372782..114379719hg19UCSC Ensembl
Cytoband7q31.1
Allele length
AssemblyAllele length
hg386845
hg196845
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3614665
Supporting Variants
SamplesHG00306
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12932537
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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