A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3605868



Internal ID6992805
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:96911798..96922208hg38UCSC Ensembl
Innerchr5:96912298..96921708hg38UCSC Ensembl
Outerchr5:96910798..96923208hg38UCSC Ensembl
chr5:96247502..96257912hg19UCSC Ensembl
Innerchr5:96248002..96257412hg19UCSC Ensembl
Outerchr5:96246502..96258912hg19UCSC Ensembl
Cytoband5q15
Allele length
AssemblyAllele length
hg3810411
hg1910411
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11984494, essv11984493, essv11984492, essv11984495
SamplesNA18998, NA19068, NA18566, NA18983
Known GenesERAP2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3605868
Frequency
Sample Size2504
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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