A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11562580



Internal ID840970
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:111501682..111505078hg38UCSC Ensembl
Innerchr4:111501682..111505078hg38UCSC Ensembl
Outerchr4:111501333..111505407hg38UCSC Ensembl
chr4:112422838..112426234hg19UCSC Ensembl
Innerchr4:112422838..112426234hg19UCSC Ensembl
Outerchr4:112422489..112426563hg19UCSC Ensembl
Cytoband4q25
Allele length
AssemblyAllele length
hg383397
hg193397
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3601781
Supporting Variants
SamplesHG00436
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11562580
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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