A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12997594



Internal ID3889669
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:146096107..146098048hg38UCSC Ensembl
Innerchr7:146096163..146097992hg38UCSC Ensembl
Outerchr7:146096051..146098104hg38UCSC Ensembl
chr7:145793200..145795141hg19UCSC Ensembl
Innerchr7:145793256..145795085hg19UCSC Ensembl
Outerchr7:145793144..145795197hg19UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg381942
hg191942
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3615361
Supporting Variants
SamplesHG03539
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12997594
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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