A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10815347



Internal ID3153356
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:196126366..196161127hg38UCSC Ensembl
Innerchr2:196126383..196161111hg38UCSC Ensembl
Outerchr2:196126350..196161144hg38UCSC Ensembl
chr2:196991090..197025851hg19UCSC Ensembl
Innerchr2:196991107..197025835hg19UCSC Ensembl
Outerchr2:196991074..197025868hg19UCSC Ensembl
Cytoband2q32.3
Allele length
AssemblyAllele length
hg3834762
hg1934762
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3593879
Supporting Variants
SamplesHG02775
Known GenesSTK17B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10815347
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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