A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3603389



Internal ID6990421
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:180774100..180782693hg38UCSC Ensembl
Innerchr4:180774124..180782669hg38UCSC Ensembl
Outerchr4:180774076..180782717hg38UCSC Ensembl
chr4:181695253..181703846hg19UCSC Ensembl
Innerchr4:181695277..181703822hg19UCSC Ensembl
Outerchr4:181695229..181703870hg19UCSC Ensembl
Cytoband4q34.3
Allele length
AssemblyAllele length
hg388594
hg198594
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11728346, essv11728347
SamplesNA20858, HG01678
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3603389
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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