A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14618797



Internal ID4620613
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:121063111..121157572hg38UCSC Ensembl
chr12:121500914..121595375hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg3894462
hg1994462
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3630934
Supporting Variants
SamplesHG01979
Known GenesP2RX7
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14618797
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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