A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11404535



Internal ID6242476
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:40233428..40235419hg38UCSC Ensembl
Innerchr4:40233542..40235305hg38UCSC Ensembl
Outerchr4:40233314..40235533hg38UCSC Ensembl
chr4:40235048..40237039hg19UCSC Ensembl
Innerchr4:40235162..40236925hg19UCSC Ensembl
Outerchr4:40234934..40237153hg19UCSC Ensembl
Cytoband4p14
Allele length
AssemblyAllele length
hg381992
hg191992
Variant TypeOTHER inversion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3600303
Supporting Variants
SamplesNA19770
Known GenesRHOH
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11404535
Frequency
Sample Size2504
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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