A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3604325



Internal ID6991355
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:21740753..21743345hg38UCSC Ensembl
Innerchr5:21740760..21743339hg38UCSC Ensembl
Outerchr5:21740747..21743352hg38UCSC Ensembl
chr5:21740862..21743454hg19UCSC Ensembl
Innerchr5:21740869..21743448hg19UCSC Ensembl
Outerchr5:21740856..21743461hg19UCSC Ensembl
Cytoband5p14.3
Allele length
AssemblyAllele length
hg382593
hg192593
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11836125, essv11836100, essv11836124, essv11836119, essv11836114, essv11836129, essv11836111, essv11836131, essv11836126, essv11836115, essv11836118, essv11836122, essv11836109, essv11836127, essv11836113, essv11836104, essv11836106, essv11836107, essv11836105, essv11836121, essv11836108, essv11836101, essv11836116, essv11836128, essv11836120, essv11836102, essv11836123, essv11836110, essv11836117, essv11836103, essv11836130, essv11836112
SamplesHG04096, NA20899, NA20878, HG03767, HG03009, HG02690, HG03722, HG03765, HG03604, HG04182, HG04070, NA20910, HG03968, NA20869, NA20904, NA20854, HG03685, HG03907, HG03760, HG02775, HG04019, NA20876, HG03871, NA20866, HG03713, HG04200, NA21087, HG03598, HG02682, HG03681, HG03600, HG04209
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3604325
Frequency
Sample Size2504
Observed Gain0
Observed Loss32
Observed Complex0
Frequencyn/a


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