A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11476732



Internal ID1478548
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:67587810..67588500hg38UCSC Ensembl
Innerchr4:67587881..67588430hg38UCSC Ensembl
Outerchr4:67587740..67588571hg38UCSC Ensembl
chr4:68453528..68454218hg19UCSC Ensembl
Innerchr4:68453599..68454148hg19UCSC Ensembl
Outerchr4:68453458..68454289hg19UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg38691
hg19691
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3600852
Supporting Variants
SamplesNA19041
Known GenesSTAP1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11476732
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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