A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11717650



Internal ID2200961
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:175568561..175621727hg38UCSC Ensembl
Innerchr4:175568574..175621715hg38UCSC Ensembl
Outerchr4:175568549..175621740hg38UCSC Ensembl
chr4:176489712..176542878hg19UCSC Ensembl
Innerchr4:176489725..176542866hg19UCSC Ensembl
Outerchr4:176489700..176542891hg19UCSC Ensembl
Cytoband4q34.2
Allele length
AssemblyAllele length
hg3853167
hg1953167
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3603261
Supporting Variants
SamplesHG01982
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11717650
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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