A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12917788



Internal ID4149421
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:107538973..107541734hg38UCSC Ensembl
Innerchr7:107539008..107541700hg38UCSC Ensembl
Outerchr7:107538939..107541769hg38UCSC Ensembl
chr7:107179418..107182179hg19UCSC Ensembl
Innerchr7:107179453..107182145hg19UCSC Ensembl
Outerchr7:107179384..107182214hg19UCSC Ensembl
Cytoband7q22.3
Allele length
AssemblyAllele length
hg382762
hg192762
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3614461
Supporting Variants
SamplesHG03755
Known GenesCOG5
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12917788
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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