A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3603760



Internal ID6990791
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:666612..668370hg38UCSC Ensembl
Innerchr5:666662..668320hg38UCSC Ensembl
Outerchr5:666382..668600hg38UCSC Ensembl
chr5:666727..668485hg19UCSC Ensembl
Innerchr5:666777..668435hg19UCSC Ensembl
Outerchr5:666497..668715hg19UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg381759
hg191759
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11767979, essv11767981, essv11767984, essv11767982, essv11767985, essv11767980, essv11767983, essv11767978, essv11767977
SamplesHG02318, NA19317, NA19391, HG03027, NA18907, NA19257, NA20296, HG01131, NA19129
Known GenesTPPP
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3603760
Frequency
Sample Size2504
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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