A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3601269



Internal ID6641526
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:87264597..87307281hg38UCSC Ensembl
Innerchr4:87264611..87307267hg38UCSC Ensembl
Outerchr4:87264583..87307295hg38UCSC Ensembl
chr4:88185749..88228433hg19UCSC Ensembl
Innerchr4:88185763..88228419hg19UCSC Ensembl
Outerchr4:88185735..88228447hg19UCSC Ensembl
Cytoband4q22.1
Allele length
AssemblyAllele length
hg3842685
hg1942685
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1012e214
Supporting Variantsessv11527214, essv11527216, essv11527212, essv11527213, essv11527217, essv11527215
SamplesNA19028, NA19314, NA19315, NA19385, HG03240, NA19351
Known GenesHSD17B13, MIR5705
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3601269
Frequency
Sample Size2504
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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