A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12077331



Internal ID2079147
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:141111710..141139737hg38UCSC Ensembl
Innerchr5:141111710..141139737hg38UCSC Ensembl
Outerchr5:141111669..141139881hg38UCSC Ensembl
chr5:140491292..140519319hg19UCSC Ensembl
Innerchr5:140491292..140519319hg19UCSC Ensembl
Outerchr5:140491251..140519463hg19UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg3828028
hg1928028
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3606962
Supporting Variants
SamplesHG04096
Known GenesPCDHB4, PCDHB5
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12077331
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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