A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3628951



Internal ID7015773
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:27872996..27889243hg38UCSC Ensembl
Innerchr12:27873496..27888743hg38UCSC Ensembl
Outerchr12:27871996..27890243hg38UCSC Ensembl
chr12:28025929..28042176hg19UCSC Ensembl
Innerchr12:28026429..28041676hg19UCSC Ensembl
Outerchr12:28024929..28043176hg19UCSC Ensembl
Cytoband12p11.22
Allele length
AssemblyAllele length
hg3816248
hg1916248
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14419464, essv14419465
SamplesNA21088, HG03977
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3628951
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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