A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11765493



Internal ID1767309
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:333391..335359hg38UCSC Ensembl
Innerchr5:333413..335338hg38UCSC Ensembl
Outerchr5:333370..335381hg38UCSC Ensembl
chr5:333506..335474hg19UCSC Ensembl
Innerchr5:333528..335453hg19UCSC Ensembl
Outerchr5:333485..335496hg19UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg381969
hg191969
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3603743
Supporting Variants
SamplesHG02703
Known GenesAHRR
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11765493
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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