A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10770184



Internal ID1104825
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:176747484..176749523hg38UCSC Ensembl
Innerchr2:176747484..176749523hg38UCSC Ensembl
Outerchr2:176747321..176749672hg38UCSC Ensembl
chr2:177612212..177614251hg19UCSC Ensembl
Innerchr2:177612212..177614251hg19UCSC Ensembl
Outerchr2:177612049..177614400hg19UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg382040
hg192040
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3593453
Supporting Variants
SamplesHG00734
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10770184
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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