A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3601225



Internal ID6641482
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:84624349..84625894hg38UCSC Ensembl
Innerchr4:84624356..84625887hg38UCSC Ensembl
Outerchr4:84624342..84625901hg38UCSC Ensembl
chr4:85545502..85547047hg19UCSC Ensembl
Innerchr4:85545509..85547040hg19UCSC Ensembl
Outerchr4:85545495..85547054hg19UCSC Ensembl
Cytoband4q21.23
Allele length
AssemblyAllele length
hg381546
hg191546
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11521850, essv11521852, essv11521849, essv11521853, essv11521854, essv11521848, essv11521851
SamplesNA19404, NA19401, NA19397, NA19375, NA19393, NA19376, NA19035
Known GenesCDS1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3601225
Frequency
Sample Size2504
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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