A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14549914



Internal ID6751197
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:81120342..81126142hg38UCSC Ensembl
Innerchr12:81120342..81126142hg38UCSC Ensembl
Outerchr12:81120075..81126422hg38UCSC Ensembl
chr12:81514121..81519921hg19UCSC Ensembl
Innerchr12:81514121..81519921hg19UCSC Ensembl
Outerchr12:81513854..81520201hg19UCSC Ensembl
Cytoband12q21.31
Allele length
AssemblyAllele length
hg385801
hg195801
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3630129
Supporting Variants
SamplesNA20866
Known GenesACSS3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14549914
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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