A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3611842



Internal ID6998744
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:2427966..2429941hg38UCSC Ensembl
Innerchr7:2427980..2429927hg38UCSC Ensembl
Outerchr7:2427952..2429955hg38UCSC Ensembl
chr7:2467601..2469576hg19UCSC Ensembl
Innerchr7:2467615..2469562hg19UCSC Ensembl
Outerchr7:2467587..2469590hg19UCSC Ensembl
Cytoband7p22.3
Allele length
AssemblyAllele length
hg381976
hg191976
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12668472, essv12668474, essv12668477, essv12668475, essv12668476, essv12668479, essv12668473, essv12668478, essv12668471
SamplesHG03645, HG02016, HG04214, HG03968, NA19917, HG04047, HG03844, NA12873, HG03611
Known GenesCHST12
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3611842
Frequency
Sample Size2504
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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