A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3606590



Internal ID6646832
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:122321456..122327038hg38UCSC Ensembl
Innerchr5:122321493..122327002hg38UCSC Ensembl
Outerchr5:122321420..122327075hg38UCSC Ensembl
chr5:121657151..121662733hg19UCSC Ensembl
Innerchr5:121657188..121662697hg19UCSC Ensembl
Outerchr5:121657115..121662770hg19UCSC Ensembl
Cytoband5q23.2
Allele length
AssemblyAllele length
hg385583
hg195583
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12042883
SamplesHG03354
Known GenesSNCAIP
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3606590
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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