A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10285699



Internal ID287515
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:212297837..212299277hg38UCSC Ensembl
Innerchr1:212297837..212299277hg38UCSC Ensembl
Outerchr1:212297366..212299721hg38UCSC Ensembl
chr1:212471179..212472619hg19UCSC Ensembl
Innerchr1:212471179..212472619hg19UCSC Ensembl
Outerchr1:212470708..212473063hg19UCSC Ensembl
Cytoband1q32.3
Allele length
AssemblyAllele length
hg381441
hg191441
Variant TypeCNV loss
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3588749
Supporting Variants
SamplesHG00451
Known GenesPPP2R5A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10285699
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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