A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10832802



Internal ID834618
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:207842205..207844624hg38UCSC Ensembl
Innerchr2:207842205..207844624hg38UCSC Ensembl
Outerchr2:207841977..207844792hg38UCSC Ensembl
chr2:208706929..208709348hg19UCSC Ensembl
Innerchr2:208706929..208709348hg19UCSC Ensembl
Outerchr2:208706701..208709516hg19UCSC Ensembl
Cytoband2q33.3
Allele length
AssemblyAllele length
hg382420
hg192420
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3594100
Supporting Variants
SamplesHG01694
Known GenesPLEKHM3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10832802
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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