A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10619967



Internal ID621783
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:111102828..111104635hg38UCSC Ensembl
Innerchr2:111102828..111104635hg38UCSC Ensembl
Outerchr2:111102655..111104897hg38UCSC Ensembl
chr2:111860405..111862212hg19UCSC Ensembl
Innerchr2:111860405..111862212hg19UCSC Ensembl
Outerchr2:111860232..111862474hg19UCSC Ensembl
Cytoband2q13
Allele length
AssemblyAllele length
hg381808
hg191808
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3591977
Supporting Variants
SamplesNA19449
Known GenesACOXL
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10619967
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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