A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3600795



Internal ID6641053
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:65528574..65564987hg38UCSC Ensembl
Innerchr4:65528601..65564960hg38UCSC Ensembl
Outerchr4:65528547..65565014hg38UCSC Ensembl
chr4:66394292..66430705hg19UCSC Ensembl
Innerchr4:66394319..66430678hg19UCSC Ensembl
Outerchr4:66394265..66430732hg19UCSC Ensembl
Cytoband4q13.1
Allele length
AssemblyAllele length
hg3836414
hg1936414
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11469277
SamplesNA07037
Known GenesEPHA5
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3600795
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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