A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3629029



Internal ID6669169
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:30959884..30962316hg38UCSC Ensembl
Innerchr12:30959884..30962316hg38UCSC Ensembl
Outerchr12:30959625..30962595hg38UCSC Ensembl
chr12:31112819..31115251hg19UCSC Ensembl
Innerchr12:31112819..31115251hg19UCSC Ensembl
Outerchr12:31112560..31115530hg19UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg382433
hg192433
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14431755, essv14431751, essv14431756, essv14431769, essv14431752, essv14431753, essv14431758, essv14431767, essv14431750, essv14431768, essv14431754, essv14431765, essv14431763, essv14431764, essv14431770, essv14431759, essv14431757, essv14431760, essv14431762, essv14431761, essv14431766
SamplesNA19222, NA19703, NA19393, NA19201, NA20291, HG01110, NA19404, HG02819, NA19462, HG01077, HG01880, NA19031, NA18523, HG01990, NA19323, HG03025, NA19185, NA19213, NA19900, HG02052, NA19129
Known GenesTSPAN11
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3629029
Frequency
Sample Size2504
Observed Gain0
Observed Loss21
Observed Complex0
Frequencyn/a


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