A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3629054



Internal ID7015876
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:31747329..31761702hg38UCSC Ensembl
Innerchr12:31747400..31761631hg38UCSC Ensembl
Outerchr12:31747258..31761773hg38UCSC Ensembl
chr12:31900263..31914636hg19UCSC Ensembl
Innerchr12:31900334..31914565hg19UCSC Ensembl
Outerchr12:31900192..31914707hg19UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg3814374
hg1914374
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14434191, essv14434195, essv14434193, essv14434190, essv14434196, essv14434192, essv14434194
SamplesHG03572, HG01092, HG03024, NA19072, HG00237, HG03846, HG04003
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3629054
Frequency
Sample Size2504
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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