A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12985112



Internal ID2986928
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3615249
Supporting Variants
SamplesHG01571
Known GenesTMEM178B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12985112
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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