A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3604411



Internal ID6644663
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:25071412..25074372hg38UCSC Ensembl
Innerchr5:25071912..25073872hg38UCSC Ensembl
Outerchr5:25070412..25075372hg38UCSC Ensembl
chr5:25071521..25074481hg19UCSC Ensembl
Innerchr5:25072021..25073981hg19UCSC Ensembl
Outerchr5:25070521..25075481hg19UCSC Ensembl
Cytoband5p14.1
Allele length
AssemblyAllele length
hg382961
hg192961
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11844335, essv11844351, essv11844336, essv11844346, essv11844334, essv11844332, essv11844340, essv11844338, essv11844347, essv11844341, essv11844337, essv11844349, essv11844348, essv11844343, essv11844333, essv11844331, essv11844344, essv11844342, essv11844350, essv11844345, essv11844339
SamplesHG01986, NA19703, HG03378, NA18861, NA18486, HG03295, HG01461, HG02811, HG02541, HG03105, NA19041, HG02439, HG03547, HG02144, NA18499, HG03461, NA19324, NA19117, HG02938, NA19474, HG02861
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3604411
Frequency
Sample Size2504
Observed Gain0
Observed Loss21
Observed Complex0
Frequencyn/a


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