A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14533848



Internal ID6934905
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:73698831..73708025hg38UCSC Ensembl
Innerchr12:73698842..73708015hg38UCSC Ensembl
Outerchr12:73698821..73708036hg38UCSC Ensembl
chr12:74092611..74101805hg19UCSC Ensembl
Innerchr12:74092622..74101795hg19UCSC Ensembl
Outerchr12:74092601..74101816hg19UCSC Ensembl
Cytoband12q21.1
Allele length
AssemblyAllele length
hg389195
hg199195
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3629958
Supporting Variants
SamplesNA21124
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14533848
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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