A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12105573



Internal ID2107389
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:155733910..155740456hg38UCSC Ensembl
Innerchr5:155733910..155740456hg38UCSC Ensembl
Outerchr5:155733410..155740956hg38UCSC Ensembl
chr5:155113470..155120016hg19UCSC Ensembl
Innerchr5:155113470..155120016hg19UCSC Ensembl
Outerchr5:155112970..155120516hg19UCSC Ensembl
Cytoband5q33.2
Allele length
AssemblyAllele length
hg386547
hg196547
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3607264
Supporting Variants
SamplesHG01164
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12105573
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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