A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10721068



Internal ID6079959
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:155876893..155884593hg38UCSC Ensembl
Innerchr2:155876893..155884593hg38UCSC Ensembl
Outerchr2:155876722..155884750hg38UCSC Ensembl
chr2:156733405..156741105hg19UCSC Ensembl
Innerchr2:156733405..156741105hg19UCSC Ensembl
Outerchr2:156733234..156741262hg19UCSC Ensembl
Cytoband2q24.1
Allele length
AssemblyAllele length
hg387701
hg197701
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3593032
Supporting Variants
SamplesNA19466
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10721068
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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