A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3629328



Internal ID7016150
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:42496655..42496976hg38UCSC Ensembl
Innerchr12:42496658..42496974hg38UCSC Ensembl
Outerchr12:42496653..42496979hg38UCSC Ensembl
chr12:42890457..42890778hg19UCSC Ensembl
Innerchr12:42890460..42890776hg19UCSC Ensembl
Outerchr12:42890455..42890781hg19UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg38322
hg19322
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14459559, essv14459553, essv14459558, essv14459560, essv14459552, essv14459556, essv14459554, essv14459555, essv14459557, essv14459561
SamplesHG01885, HG02541, HG03079, HG01058, NA18856, HG01272, NA19144, NA19143, HG03538, HG02629
Known GenesPRICKLE1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3629328
Frequency
Sample Size2504
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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