A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3606300



Internal ID6646543
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:112791218..112792066hg38UCSC Ensembl
Innerchr5:112791227..112792057hg38UCSC Ensembl
Outerchr5:112791209..112792075hg38UCSC Ensembl
chr5:112126915..112127763hg19UCSC Ensembl
Innerchr5:112126924..112127754hg19UCSC Ensembl
Outerchr5:112126906..112127772hg19UCSC Ensembl
Cytoband5q22.2
Allele length
AssemblyAllele length
hg38849
hg19849
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12022775, essv12022778, essv12022781, essv12022779, essv12022780, essv12022773, essv12022776, essv12022782, essv12022777, essv12022774
SamplesNA20876, NA21129, HG03736, NA20882, NA21122, NA21107, HG03788, NA21103, NA21126, HG04189
Known GenesAPC
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3606300
Frequency
Sample Size2504
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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