A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10522198



Internal ID524014
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:63463850..63465704hg38UCSC Ensembl
Innerchr2:63463851..63465703hg38UCSC Ensembl
Outerchr2:63463849..63465705hg38UCSC Ensembl
chr2:63690984..63692838hg19UCSC Ensembl
Innerchr2:63690985..63692837hg19UCSC Ensembl
Outerchr2:63690983..63692839hg19UCSC Ensembl
Cytoband2p15
Allele length
AssemblyAllele length
hg381855
hg191855
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3591058
Supporting Variants
SamplesHG03667
Known GenesWDPCP
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10522198
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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