A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10753985



Internal ID2050220
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:168730489..168731689hg38UCSC Ensembl
Innerchr2:168730489..168731689hg38UCSC Ensembl
Outerchr2:168730231..168732043hg38UCSC Ensembl
chr2:169586999..169588199hg19UCSC Ensembl
Innerchr2:169586999..169588199hg19UCSC Ensembl
Outerchr2:169586741..169588553hg19UCSC Ensembl
Cytoband2q24.3
Allele length
AssemblyAllele length
hg381201
hg191201
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3593317
Supporting Variants
SamplesHG01872
Known GenesCERS6
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10753985
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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