A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12000012



Internal ID1456793
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:101571487..101732105hg38UCSC Ensembl
chr5:100907191..101067809hg19UCSC Ensembl
Cytoband5q21.1
Allele length
AssemblyAllele length
hg38160619
hg19160619
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3606003
Supporting Variants
SamplesHG01348
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12000012
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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