A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3629958



Internal ID7016779
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14533848, essv14533841, essv14533843, essv14533847, essv14533846, essv14533842, essv14533840, essv14533839, essv14533838, essv14533837, essv14533845, essv14533844
SamplesHG03965, HG03950, HG04059, HG03757, HG03897, HG03908, HG01880, NA21124, NA20859, HG03833, HG02654, HG04098
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3629958
Frequency
Sample Size2504
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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