A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10751411



Internal ID753227
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:167973441..167979737hg38UCSC Ensembl
Innerchr2:167973441..167979737hg38UCSC Ensembl
Outerchr2:167973308..167979890hg38UCSC Ensembl
chr2:168829951..168836247hg19UCSC Ensembl
Innerchr2:168829951..168836247hg19UCSC Ensembl
Outerchr2:168829818..168836400hg19UCSC Ensembl
Cytoband2q24.3
Allele length
AssemblyAllele length
hg386297
hg196297
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3593301
Supporting Variants
SamplesNA19065
Known GenesSTK39
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10751411
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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