A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11902769



Internal ID2128581
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:52976803..52981146hg38UCSC Ensembl
Innerchr5:52976803..52981146hg38UCSC Ensembl
Outerchr5:52976303..52981646hg38UCSC Ensembl
chr5:52272633..52276976hg19UCSC Ensembl
Innerchr5:52272633..52276976hg19UCSC Ensembl
Outerchr5:52272133..52277476hg19UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg384344
hg194344
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3605063
Supporting Variants
SamplesHG01933
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11902769
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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