A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3599920



Internal ID6986965
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:23412290..23453952hg38UCSC Ensembl
Innerchr4:23412312..23453931hg38UCSC Ensembl
Outerchr4:23412269..23453974hg38UCSC Ensembl
chr4:23413913..23455575hg19UCSC Ensembl
Innerchr4:23413935..23455554hg19UCSC Ensembl
Outerchr4:23413892..23455597hg19UCSC Ensembl
Cytoband4p15.2
Allele length
AssemblyAllele length
hg3841663
hg1941663
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11370371
SamplesNA21116
Known GenesMIR548AJ2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3599920
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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