A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3615247



Internal ID6655446
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:141085465..141086051hg38UCSC Ensembl
Innerchr7:141085525..141085991hg38UCSC Ensembl
Outerchr7:141085405..141086111hg38UCSC Ensembl
chr7:140785265..140785851hg19UCSC Ensembl
Innerchr7:140785325..140785791hg19UCSC Ensembl
Outerchr7:140785205..140785911hg19UCSC Ensembl
Cytoband7q34
Allele length
AssemblyAllele length
hg38587
hg19587
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12985100, essv12985109, essv12985105, essv12985102, essv12985110, essv12985106, essv12985098, essv12985097, essv12985108, essv12985107, essv12985103, essv12985101, essv12985104, essv12985099
SamplesHG03084, HG01403, HG03469, HG03311, NA19257, NA19471, HG03241, NA19316, HG03514, HG02343, NA19041, HG03025, HG01912, HG01110
Known GenesTMEM178B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3615247
Frequency
Sample Size2504
Observed Gain0
Observed Loss14
Observed Complex0
Frequencyn/a


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