A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3605598



Internal ID6992536
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:81482851..81551475hg38UCSC Ensembl
Innerchr5:81482879..81551448hg38UCSC Ensembl
Outerchr5:81482824..81551503hg38UCSC Ensembl
chr5:80778670..80847294hg19UCSC Ensembl
Innerchr5:80778698..80847267hg19UCSC Ensembl
Outerchr5:80778643..80847322hg19UCSC Ensembl
Cytoband5q14.1
Allele length
AssemblyAllele length
hg3868625
hg1968625
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1109e214
Supporting Variantsessv11956850
SamplesNA11918
Known GenesSSBP2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3605598
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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