A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12119131



Internal ID4079634
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:162178578..162321820hg38UCSC Ensembl
chr5:161605584..161748826hg19UCSC Ensembl
Cytoband5q34
Allele length
AssemblyAllele length
hg38143243
hg19143243
Variant TypeCNV loss
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3607418
Supporting Variants
SamplesHG03709
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12119131
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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