A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3600505



Internal ID6987548
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:52502297..52513759hg38UCSC Ensembl
Innerchr4:52502297..52513759hg38UCSC Ensembl
Outerchr4:52501797..52514259hg38UCSC Ensembl
chr4:53368463..53379925hg19UCSC Ensembl
Innerchr4:53368463..53379925hg19UCSC Ensembl
Outerchr4:53367963..53380425hg19UCSC Ensembl
Cytoband4q12
Allele length
AssemblyAllele length
hg3811463
hg1911463
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11432205
SamplesHG03007
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3600505
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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