A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3612242



Internal ID6999143
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:12144802..12181553hg38UCSC Ensembl
Innerchr7:12144802..12181553hg38UCSC Ensembl
Outerchr7:12144302..12182053hg38UCSC Ensembl
chr7:12184428..12221179hg19UCSC Ensembl
Innerchr7:12184428..12221179hg19UCSC Ensembl
Outerchr7:12183928..12221679hg19UCSC Ensembl
Cytoband7p21.3
Allele length
AssemblyAllele length
hg3836752
hg1936752
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12683628
SamplesHG03007
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3612242
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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