A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12985111



Internal ID2986927
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:141115074..141118245hg38UCSC Ensembl
Innerchr7:141115100..141118220hg38UCSC Ensembl
Outerchr7:141115049..141118271hg38UCSC Ensembl
chr7:140814874..140818045hg19UCSC Ensembl
Innerchr7:140814900..140818020hg19UCSC Ensembl
Outerchr7:140814849..140818071hg19UCSC Ensembl
Cytoband7q34
Allele length
AssemblyAllele length
hg383172
hg193172
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3615248
Supporting Variants
SamplesHG03046
Known GenesTMEM178B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12985111
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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