A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11927018



Internal ID1928834
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:62401720..62409963hg38UCSC Ensembl
Innerchr5:62401770..62409913hg38UCSC Ensembl
Outerchr5:62401630..62410053hg38UCSC Ensembl
chr5:61697547..61705790hg19UCSC Ensembl
Innerchr5:61697597..61705740hg19UCSC Ensembl
Outerchr5:61697457..61705880hg19UCSC Ensembl
Cytoband5q12.1
Allele length
AssemblyAllele length
hg388244
hg198244
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3605234
Supporting Variants
SamplesNA18602
Known GenesDIMT1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11927018
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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