A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3629023



Internal ID7015845
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:30761075..30762348hg38UCSC Ensembl
Innerchr12:30761125..30762288hg38UCSC Ensembl
Outerchr12:30760961..30762462hg38UCSC Ensembl
chr12:30914009..30915282hg19UCSC Ensembl
Innerchr12:30914059..30915222hg19UCSC Ensembl
Outerchr12:30913895..30915396hg19UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg381274
hg191274
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14431052, essv14431050, essv14431055, essv14431056, essv14431060, essv14431059, essv14431054, essv14431062, essv14431061, essv14431051, essv14431057, essv14431053, essv14431058
SamplesHG02574, HG02589, HG03436, HG02810, HG03578, HG02703, HG02573, HG02461, HG02582, HG03085, HG03458, HG02611, HG03469
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3629023
Frequency
Sample Size2504
Observed Gain0
Observed Loss13
Observed Complex0
Frequencyn/a


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