A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11405203



Internal ID3420386
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:40838941..40841672hg38UCSC Ensembl
Innerchr4:40838944..40841669hg38UCSC Ensembl
Outerchr4:40838938..40841675hg38UCSC Ensembl
chr4:40840958..40843689hg19UCSC Ensembl
Innerchr4:40840961..40843686hg19UCSC Ensembl
Outerchr4:40840955..40843692hg19UCSC Ensembl
Cytoband4p14
Allele length
AssemblyAllele length
hg382732
hg192732
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3600319
Supporting Variants
SamplesHG03060
Known GenesAPBB2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11405203
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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