A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3629016



Internal ID7015838
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:30462635..30463345hg38UCSC Ensembl
Innerchr12:30462637..30463344hg38UCSC Ensembl
Outerchr12:30462634..30463347hg38UCSC Ensembl
chr12:30615568..30616278hg19UCSC Ensembl
Innerchr12:30615570..30616277hg19UCSC Ensembl
Outerchr12:30615567..30616280hg19UCSC Ensembl
Cytoband12p11.22
Allele length
AssemblyAllele length
hg38711
hg19711
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14430126, essv14430121, essv14430125, essv14430127, essv14430122, essv14430124, essv14430123, essv14430120, essv14430128
SamplesNA18602, HG02185, HG02178, HG00406, NA18976, HG01808, HG02031, NA18952, HG02182
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3629016
Frequency
Sample Size2504
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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