A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12023523



Internal ID6615634
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:113487835..113491155hg38UCSC Ensembl
Innerchr5:113487879..113491111hg38UCSC Ensembl
Outerchr5:113487791..113491199hg38UCSC Ensembl
chr5:112823532..112826852hg19UCSC Ensembl
Innerchr5:112823576..112826808hg19UCSC Ensembl
Outerchr5:112823488..112826896hg19UCSC Ensembl
Cytoband5q22.2
Allele length
AssemblyAllele length
hg383321
hg193321
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3606316
Supporting Variants
SamplesNA20783
Known GenesMCC
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12023523
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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