A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3603788



Internal ID6990819
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:951987..1049107hg38UCSC Ensembl
chr5:952102..1049222hg19UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg3897121
hg1997121
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11774076, essv11774075
SamplesHG03040, NA19108
Known GenesLOC100506688, NKD2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3603788
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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