A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3628491



Internal ID7015315
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:9002549..9003657hg38UCSC Ensembl
Innerchr12:9002594..9003613hg38UCSC Ensembl
Outerchr12:9002505..9003702hg38UCSC Ensembl
chr12:9155145..9156253hg19UCSC Ensembl
Innerchr12:9155190..9156209hg19UCSC Ensembl
Outerchr12:9155101..9156298hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg381109
hg191109
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14361820, essv14361819, essv14361816, essv14361824, essv14361818, essv14361822, essv14361823, essv14361815, essv14361821, essv14361817
SamplesHG02981, HG03045, HG02570, HG03160, NA19043, HG02613, NA19390, NA19037, HG02982, NA19129
Known GenesKLRG1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3628491
Frequency
Sample Size2504
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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