A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3623243



Internal ID6663411
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:52116472..52118115hg38UCSC Ensembl
Innerchr10:52116522..52118065hg38UCSC Ensembl
Outerchr10:52116422..52118165hg38UCSC Ensembl
chr10:53876232..53877875hg19UCSC Ensembl
Innerchr10:53876282..53877825hg19UCSC Ensembl
Outerchr10:53876182..53877925hg19UCSC Ensembl
Cytoband10q21.1
Allele length
AssemblyAllele length
hg381644
hg191644
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13806144, essv13806142, essv13806143, essv13806145
SamplesHG03057, HG00553, HG03458, HG03445
Known GenesPRKG1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3623243
Frequency
Sample Size2504
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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