A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11440832



Internal ID505662
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:56516665..56525657hg38UCSC Ensembl
Innerchr4:56516665..56525657hg38UCSC Ensembl
Outerchr4:56516439..56525886hg38UCSC Ensembl
chr4:57382831..57391823hg19UCSC Ensembl
Innerchr4:57382831..57391823hg19UCSC Ensembl
Outerchr4:57382605..57392052hg19UCSC Ensembl
Cytoband4q12
Allele length
AssemblyAllele length
hg388993
hg198993
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3600576
Supporting Variants
SamplesHG00180
Known GenesARL9
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11440832
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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