A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11501011



Internal ID4380667
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:73106776..73108265hg38UCSC Ensembl
Innerchr4:73106830..73108212hg38UCSC Ensembl
Outerchr4:73106723..73108319hg38UCSC Ensembl
chr4:73972493..73973982hg19UCSC Ensembl
Innerchr4:73972547..73973929hg19UCSC Ensembl
Outerchr4:73972440..73974036hg19UCSC Ensembl
Cytoband4q13.3
Allele length
AssemblyAllele length
hg381490
hg191490
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3600989
Supporting Variants
SamplesHG03907
Known GenesANKRD17
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11501011
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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