A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11597514



Internal ID6259492
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:128707542..128857210hg38UCSC Ensembl
Innerchr4:128707692..128857060hg38UCSC Ensembl
Outerchr4:128707392..128857360hg38UCSC Ensembl
chr4:129628697..129778365hg19UCSC Ensembl
Innerchr4:129628847..129778215hg19UCSC Ensembl
Outerchr4:129628547..129778515hg19UCSC Ensembl
Cytoband4q28.2
Allele length
AssemblyAllele length
hg38149669
hg19149669
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3602165
Supporting Variants
SamplesNA19780
Known GenesJADE1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11597514
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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