A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12129088



Internal ID2017262
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:170057891..170061907hg38UCSC Ensembl
Innerchr5:170057925..170061873hg38UCSC Ensembl
Outerchr5:170057857..170061941hg38UCSC Ensembl
chr5:169484895..169488911hg19UCSC Ensembl
Innerchr5:169484929..169488877hg19UCSC Ensembl
Outerchr5:169484861..169488945hg19UCSC Ensembl
Cytoband5q35.1
Allele length
AssemblyAllele length
hg384017
hg194017
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3607563
Supporting Variants
SamplesHG01859
Known GenesDOCK2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12129088
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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