A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10652770



Internal ID6238769
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:123202758..123220924hg38UCSC Ensembl
Innerchr2:123202758..123220924hg38UCSC Ensembl
Outerchr2:123202258..123221424hg38UCSC Ensembl
chr2:123960334..123978500hg19UCSC Ensembl
Innerchr2:123960334..123978500hg19UCSC Ensembl
Outerchr2:123959834..123979000hg19UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg3818167
hg1918167
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3592257
Supporting Variants
SamplesNA19762
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10652770
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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