A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3628947



Internal ID7015769
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:27725998..27729949hg38UCSC Ensembl
Innerchr12:27725998..27729949hg38UCSC Ensembl
Outerchr12:27725776..27730144hg38UCSC Ensembl
chr12:27878931..27882882hg19UCSC Ensembl
Innerchr12:27878931..27882882hg19UCSC Ensembl
Outerchr12:27878709..27883077hg19UCSC Ensembl
Cytoband12p11.22
Allele length
AssemblyAllele length
hg383952
hg193952
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14419442, essv14419433, essv14419435, essv14419436, essv14419434, essv14419441, essv14419445, essv14419447, essv14419440, essv14419443, essv14419437, essv14419432, essv14419448, essv14419439, essv14419446, essv14419444, essv14419438
SamplesHG01885, NA19098, NA18510, NA19171, NA18498, NA19922, HG03268, HG01124, HG02977, NA19327, HG03024, HG03259, NA19439, HG03473, HG02771, NA19143, NA19430
Known GenesMRPS35
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3628947
Frequency
Sample Size2504
Observed Gain0
Observed Loss17
Observed Complex0
Frequencyn/a


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