A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3615249



Internal ID6655448
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:141128929..141138930hg38UCSC Ensembl
Innerchr7:141128952..141138908hg38UCSC Ensembl
Outerchr7:141128907..141138953hg38UCSC Ensembl
chr7:140828729..140838730hg19UCSC Ensembl
Innerchr7:140828752..140838708hg19UCSC Ensembl
Outerchr7:140828707..140838753hg19UCSC Ensembl
Cytoband7q34
Allele length
AssemblyAllele length
hg3810002
hg1910002
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12985113, essv12985112
SamplesHG01571, HG01572
Known GenesTMEM178B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3615249
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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