A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12126351



Internal ID2944830
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:168084606..168088284hg38UCSC Ensembl
Innerchr5:168084608..168088283hg38UCSC Ensembl
Outerchr5:168084605..168088286hg38UCSC Ensembl
chr5:167511611..167515289hg19UCSC Ensembl
Innerchr5:167511613..167515288hg19UCSC Ensembl
Outerchr5:167511610..167515291hg19UCSC Ensembl
Cytoband5q34
Allele length
AssemblyAllele length
hg383679
hg193679
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3607531
Supporting Variants
SamplesHG02601
Known GenesTENM2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12126351
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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