A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10632585



Internal ID634401
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:114397692..114726043hg38UCSC Ensembl
Innerchr2:114397842..114725893hg38UCSC Ensembl
Outerchr2:114397542..114726193hg38UCSC Ensembl
chr2:115155269..115483620hg19UCSC Ensembl
Innerchr2:115155419..115483470hg19UCSC Ensembl
Outerchr2:115155119..115483770hg19UCSC Ensembl
Cytoband2q14.1
Allele length
AssemblyAllele length
hg38328352
hg19328352
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3592044
Supporting Variants
SamplesHG03949
Known GenesDPP10
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10632585
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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