A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12105576



Internal ID728241
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:155745577..155746653hg38UCSC Ensembl
Innerchr5:155745610..155746621hg38UCSC Ensembl
Outerchr5:155745545..155746686hg38UCSC Ensembl
chr5:155125137..155126213hg19UCSC Ensembl
Innerchr5:155125170..155126181hg19UCSC Ensembl
Outerchr5:155125105..155126246hg19UCSC Ensembl
Cytoband5q33.2
Allele length
AssemblyAllele length
hg381077
hg191077
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3607266
Supporting Variants
SamplesHG00342
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12105576
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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