A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3629024



Internal ID7015846
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:30763927..30771096hg38UCSC Ensembl
Innerchr12:30763927..30771096hg38UCSC Ensembl
Outerchr12:30763696..30771322hg38UCSC Ensembl
chr12:30916861..30924030hg19UCSC Ensembl
Innerchr12:30916861..30924030hg19UCSC Ensembl
Outerchr12:30916630..30924256hg19UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg387170
hg197170
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14431066, essv14431065, essv14431063, essv14431067, essv14431064
SamplesHG03229, HG04033, NA20862, HG04239, HG03850
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3629024
Frequency
Sample Size2504
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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