A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14556573



Internal ID4005652
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:84878791..84879843hg38UCSC Ensembl
Innerchr12:84878791..84879843hg38UCSC Ensembl
Outerchr12:84878290..84880195hg38UCSC Ensembl
chr12:85272570..85273622hg19UCSC Ensembl
Innerchr12:85272570..85273622hg19UCSC Ensembl
Outerchr12:85272069..85273974hg19UCSC Ensembl
Cytoband12q21.31
Allele length
AssemblyAllele length
hg381053
hg191053
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3630225
Supporting Variants
SamplesHG03660
Known GenesSLC6A15
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14556573
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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