A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3615248



Internal ID6655447
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12985111
SamplesHG03046
Known GenesTMEM178B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3615248
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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