A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11401455



Internal ID6316326
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:39969586..39971244hg38UCSC Ensembl
Innerchr4:39969586..39971244hg38UCSC Ensembl
Outerchr4:39969304..39971477hg38UCSC Ensembl
chr4:39971206..39972864hg19UCSC Ensembl
Innerchr4:39971206..39972864hg19UCSC Ensembl
Outerchr4:39970924..39973097hg19UCSC Ensembl
Cytoband4p14
Allele length
AssemblyAllele length
hg381659
hg191659
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3600295
Supporting Variants
SamplesNA19916
Known GenesPDS5A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11401455
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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