A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3607550



Internal ID6647790
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:169826019..169827365hg38UCSC Ensembl
Innerchr5:169826074..169827311hg38UCSC Ensembl
Outerchr5:169825965..169827420hg38UCSC Ensembl
chr5:169253023..169254369hg19UCSC Ensembl
Innerchr5:169253078..169254315hg19UCSC Ensembl
Outerchr5:169252969..169254424hg19UCSC Ensembl
Cytoband5q35.1
Allele length
AssemblyAllele length
hg381347
hg191347
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12128264
SamplesHG03139
Known GenesDOCK2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3607550
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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