A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12078698



Internal ID3510220
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:141188879..141193129hg38UCSC Ensembl
chr5:140568452..140572702hg19UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg384251
hg194251
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3606971
Supporting Variants
SamplesHG03112
Known GenesPCDHB10, PCDHB9
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12078698
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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