A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10708090



Internal ID6481334
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:147984559..148000946hg38UCSC Ensembl
Innerchr2:147984616..148000890hg38UCSC Ensembl
Outerchr2:147984503..148001003hg38UCSC Ensembl
chr2:148742128..148758515hg19UCSC Ensembl
Innerchr2:148742185..148758459hg19UCSC Ensembl
Outerchr2:148742072..148758572hg19UCSC Ensembl
Cytoband2q23.1
Allele length
AssemblyAllele length
hg3816388
hg1916388
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3592832
Supporting Variants
SamplesNA20525
Known GenesORC4
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10708090
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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