A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11957288



Internal ID6053800
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:82651373..82653176hg38UCSC Ensembl
Innerchr5:82651428..82653122hg38UCSC Ensembl
Outerchr5:82651319..82653231hg38UCSC Ensembl
chr5:81947192..81948995hg19UCSC Ensembl
Innerchr5:81947247..81948941hg19UCSC Ensembl
Outerchr5:81947138..81949050hg19UCSC Ensembl
Cytoband5q14.2
Allele length
AssemblyAllele length
hg381804
hg191804
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3605618
Supporting Variants
SamplesNA19449
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11957288
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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