A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12128443



Internal ID4444703
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:169892881..169893599hg38UCSC Ensembl
Innerchr5:169892883..169893597hg38UCSC Ensembl
Outerchr5:169892879..169893601hg38UCSC Ensembl
chr5:169319885..169320603hg19UCSC Ensembl
Innerchr5:169319887..169320601hg19UCSC Ensembl
Outerchr5:169319883..169320605hg19UCSC Ensembl
Cytoband5q35.1
Allele length
AssemblyAllele length
hg38719
hg19719
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3607554
Supporting Variants
SamplesHG03951
Known GenesDOCK2, FAM196B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12128443
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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