A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3628428



Internal ID7015252
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:7518468..7524766hg38UCSC Ensembl
Innerchr12:7518618..7524616hg38UCSC Ensembl
Outerchr12:7518318..7524916hg38UCSC Ensembl
chr12:7671064..7677362hg19UCSC Ensembl
Innerchr12:7671214..7677212hg19UCSC Ensembl
Outerchr12:7670914..7677512hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg386299
hg196299
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14348440, essv14348441, essv14348439, essv14348437, essv14348436, essv14348435, essv14348438
SamplesNA18599, NA18567, HG02070, HG01878, HG02355, HG02410, HG02406
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3628428
Frequency
Sample Size2504
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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