A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3600990



Internal ID6988029
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:73129648..73132713hg38UCSC Ensembl
Innerchr4:73130148..73132213hg38UCSC Ensembl
Outerchr4:73128648..73133713hg38UCSC Ensembl
chr4:73995365..73998430hg19UCSC Ensembl
Innerchr4:73995865..73997930hg19UCSC Ensembl
Outerchr4:73994365..73999430hg19UCSC Ensembl
Cytoband4q13.3
Allele length
AssemblyAllele length
hg383066
hg193066
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11501014
SamplesHG03722
Known GenesANKRD17
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3600990
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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