A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12022019



Internal ID2023835
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:112057248..112192312hg38UCSC Ensembl
Innerchr5:112057300..112192260hg38UCSC Ensembl
Outerchr5:112057196..112192364hg38UCSC Ensembl
chr5:111392945..111528009hg19UCSC Ensembl
Innerchr5:111392997..111527957hg19UCSC Ensembl
Outerchr5:111392893..111528061hg19UCSC Ensembl
Cytoband5q22.1
Allele length
AssemblyAllele length
hg38135065
hg19135065
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3606285
Supporting Variants
SamplesHG02262
Known GenesEPB41L4A, EPB41L4A-AS1, SNORA13
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12022019
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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