A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14591172



Internal ID3970990
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:102304077..102316831hg38UCSC Ensembl
Innerchr12:102304077..102316831hg38UCSC Ensembl
Outerchr12:102303577..102317331hg38UCSC Ensembl
chr12:102697855..102710609hg19UCSC Ensembl
Innerchr12:102697855..102710609hg19UCSC Ensembl
Outerchr12:102697355..102711109hg19UCSC Ensembl
Cytoband12q23.2
Allele length
AssemblyAllele length
hg3812755
hg1912755
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3630588
Supporting Variants
SamplesHG03625
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14591172
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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