A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3607531



Internal ID6994463
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:168084606..168088284hg38UCSC Ensembl
Innerchr5:168084608..168088283hg38UCSC Ensembl
Outerchr5:168084605..168088286hg38UCSC Ensembl
chr5:167511611..167515289hg19UCSC Ensembl
Innerchr5:167511613..167515288hg19UCSC Ensembl
Outerchr5:167511610..167515291hg19UCSC Ensembl
Cytoband5q34
Allele length
AssemblyAllele length
hg383679
hg193679
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12126353, essv12126351, essv12126352
SamplesHG03995, HG03900, HG02601
Known GenesTENM2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3607531
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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