A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14548535



Internal ID2555909
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:80561595..80616743hg38UCSC Ensembl
chr12:80955374..81010522hg19UCSC Ensembl
Cytoband12q21.31
Allele length
AssemblyAllele length
hg3855149
hg1955149
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3630115
Supporting Variants
SamplesHG02271
Known GenesPTPRQ
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14548535
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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