A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3605234



Internal ID6645480
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11927018, essv11927019
SamplesNA18602, NA18636
Known GenesDIMT1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3605234
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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