A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14479976



Internal ID6492063
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:50884183..50886199hg38UCSC Ensembl
Innerchr12:50884201..50886182hg38UCSC Ensembl
Outerchr12:50884166..50886217hg38UCSC Ensembl
chr12:51277966..51279982hg19UCSC Ensembl
Innerchr12:51277984..51279965hg19UCSC Ensembl
Outerchr12:51277949..51280000hg19UCSC Ensembl
Cytoband12q13.12
Allele length
AssemblyAllele length
hg382017
hg192017
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3629493
Supporting Variants
SamplesNA20530
Known GenesTMPRSS12
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14479976
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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