A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3605501



Internal ID6972431
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:77885698..77886925hg38UCSC Ensembl
Innerchr5:77885848..77886775hg38UCSC Ensembl
Outerchr5:77885548..77887075hg38UCSC Ensembl
chr5:77181522..77182749hg19UCSC Ensembl
Innerchr5:77181672..77182599hg19UCSC Ensembl
Outerchr5:77181372..77182899hg19UCSC Ensembl
Cytoband5q14.1
Allele length
AssemblyAllele length
hg381228
hg191228
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11949224, essv11949223, essv11949222, essv11949225
SamplesHG01079, HG01073, HG01107, HG02238
Known GenesLOC101929154
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3605501
Frequency
Sample Size2504
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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