A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12053597



Internal ID5279109
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:127782282..127786847hg38UCSC Ensembl
Innerchr5:127782298..127786831hg38UCSC Ensembl
Outerchr5:127782266..127786863hg38UCSC Ensembl
chr5:127117974..127122539hg19UCSC Ensembl
Innerchr5:127117990..127122523hg19UCSC Ensembl
Outerchr5:127117958..127122555hg19UCSC Ensembl
Cytoband5q23.2
Allele length
AssemblyAllele length
hg384566
hg194566
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3606711
Supporting Variants
SamplesNA18645
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12053597
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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