A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3605504



Internal ID6645748
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:78084566..78086723hg38UCSC Ensembl
Innerchr5:78084602..78086688hg38UCSC Ensembl
Outerchr5:78084531..78086759hg38UCSC Ensembl
chr5:77380390..77382547hg19UCSC Ensembl
Innerchr5:77380426..77382512hg19UCSC Ensembl
Outerchr5:77380355..77382583hg19UCSC Ensembl
Cytoband5q14.1
Allele length
AssemblyAllele length
hg382158
hg192158
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11949236
SamplesNA20543
Known GenesAP3B1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3605504
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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