A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12135519



Internal ID2867943
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:174331377..174333258hg38UCSC Ensembl
Innerchr5:174331388..174333248hg38UCSC Ensembl
Outerchr5:174331367..174333269hg38UCSC Ensembl
chr5:173758380..173760261hg19UCSC Ensembl
Innerchr5:173758391..173760251hg19UCSC Ensembl
Outerchr5:173758370..173760272hg19UCSC Ensembl
Cytoband5q35.2
Allele length
AssemblyAllele length
hg381882
hg191882
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3607628
Supporting Variants
SamplesHG02545
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12135519
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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