A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3628997



Internal ID7015819
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:29861787..29869036hg38UCSC Ensembl
Innerchr12:29861787..29869036hg38UCSC Ensembl
Outerchr12:29861287..29869536hg38UCSC Ensembl
chr12:30014720..30021969hg19UCSC Ensembl
Innerchr12:30014720..30021969hg19UCSC Ensembl
Outerchr12:30014220..30022469hg19UCSC Ensembl
Cytoband12p11.22
Allele length
AssemblyAllele length
hg387250
hg197250
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14423961, essv14423960, essv14423963, essv14423962
SamplesNA11931, HG03926, HG03711, HG02724
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3628997
Frequency
Sample Size2504
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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