A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3631298



Internal ID7018107
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:132508363..132509174hg38UCSC Ensembl
Innerchr12:132508366..132509171hg38UCSC Ensembl
Outerchr12:132508360..132509177hg38UCSC Ensembl
chr12:133084949..133085760hg19UCSC Ensembl
Innerchr12:133084952..133085757hg19UCSC Ensembl
Outerchr12:133084946..133085763hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg38812
hg19812
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14649510, essv14649508, essv14649512, essv14649515, essv14649513, essv14649511, essv14649514, essv14649519, essv14649518, essv14649516, essv14649517, essv14649521, essv14649509, essv14649520
SamplesNA20543, NA11995, HG00100, HG00306, NA07357, HG01503, HG01766, HG03048, HG00176, NA12342, HG01791, HG01474, HG00146, NA12763
Known GenesFBRSL1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3631298
Frequency
Sample Size2504
Observed Gain0
Observed Loss14
Observed Complex0
Frequencyn/a


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