A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3612246



Internal ID6999147
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:12237545..12244548hg38UCSC Ensembl
Innerchr7:12237545..12244548hg38UCSC Ensembl
Outerchr7:12237440..12244636hg38UCSC Ensembl
chr7:12277171..12284174hg19UCSC Ensembl
Innerchr7:12277171..12284174hg19UCSC Ensembl
Outerchr7:12277066..12284262hg19UCSC Ensembl
Cytoband7p21.3
Allele length
AssemblyAllele length
hg387004
hg197004
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12683635, essv12683634
SamplesNA19066, NA18993
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3612246
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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