A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3605111



Internal ID6992139
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:56120147..56121495hg38UCSC Ensembl
Innerchr5:56120207..56121436hg38UCSC Ensembl
Outerchr5:56120088..56121555hg38UCSC Ensembl
chr5:55415974..55417322hg19UCSC Ensembl
Innerchr5:55416034..55417263hg19UCSC Ensembl
Outerchr5:55415915..55417382hg19UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg381349
hg191349
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11906751
SamplesHG02373
Known GenesANKRD55
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3605111
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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