A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3615253



Internal ID6655452
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:141465300..141468745hg38UCSC Ensembl
Innerchr7:141465300..141468745hg38UCSC Ensembl
Outerchr7:141464948..141469101hg38UCSC Ensembl
chr7:141165100..141168545hg19UCSC Ensembl
Innerchr7:141165100..141168545hg19UCSC Ensembl
Outerchr7:141164748..141168901hg19UCSC Ensembl
Cytoband7q34
Allele length
AssemblyAllele length
hg383446
hg193446
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12985422, essv12985419, essv12985424, essv12985420, essv12985425, essv12985417, essv12985418, essv12985421, essv12985426, essv12985416, essv12985423
SamplesHG02166, HG02165, NA19090, HG00457, HG00698, HG00699, HG01851, HG02178, HG02408, HG00656, NA18610
Known GenesTMEM178B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3615253
Frequency
Sample Size2504
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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