A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11638016



Internal ID1370705
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:144000788..144096746hg38UCSC Ensembl
Innerchr4:144001288..144096246hg38UCSC Ensembl
Outerchr4:143999788..144097746hg38UCSC Ensembl
chr4:144921941..145017899hg19UCSC Ensembl
Innerchr4:144922441..145017399hg19UCSC Ensembl
Outerchr4:144920941..145018899hg19UCSC Ensembl
Cytoband4q31.21
Allele length
AssemblyAllele length
hg3895959
hg1995959
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3602528
Supporting Variants
SamplesHG01241
Known GenesGYPB
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11638016
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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