A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10557296



Internal ID1578586
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:79540645..79544032hg38UCSC Ensembl
Innerchr2:79540645..79544032hg38UCSC Ensembl
Outerchr2:79540499..79544178hg38UCSC Ensembl
chr2:79767771..79771158hg19UCSC Ensembl
Innerchr2:79767771..79771158hg19UCSC Ensembl
Outerchr2:79767625..79771304hg19UCSC Ensembl
Cytoband2p12
Allele length
AssemblyAllele length
hg383388
hg193388
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3591410
Supporting Variants
SamplesHG01461
Known GenesCTNNA2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10557296
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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