A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3603793



Internal ID6990824
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:1000934..1049174hg38UCSC Ensembl
Innerchr5:1000934..1049174hg38UCSC Ensembl
Outerchr5:1000681..1049298hg38UCSC Ensembl
chr5:1001049..1049289hg19UCSC Ensembl
Innerchr5:1001049..1049289hg19UCSC Ensembl
Outerchr5:1000796..1049413hg19UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg3848241
hg1948241
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1065e214
Supporting Variantsessv11774085, essv11774086
SamplesHG03040, NA19108
Known GenesNKD2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3603793
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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