A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3607625



Internal ID6994557
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:174224871..174237972hg38UCSC Ensembl
Innerchr5:174225021..174237822hg38UCSC Ensembl
Outerchr5:174224721..174238122hg38UCSC Ensembl
chr5:173651874..173664975hg19UCSC Ensembl
Innerchr5:173652024..173664825hg19UCSC Ensembl
Outerchr5:173651724..173665125hg19UCSC Ensembl
Cytoband5q35.2
Allele length
AssemblyAllele length
hg3813102
hg1913102
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12135461, essv12135460
SamplesHG03978, NA20887
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3607625
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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