A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3612974



Internal ID6999873
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:42706263..42719238hg38UCSC Ensembl
Innerchr7:42706263..42719238hg38UCSC Ensembl
Outerchr7:42705763..42719738hg38UCSC Ensembl
chr7:42745862..42758837hg19UCSC Ensembl
Innerchr7:42745862..42758837hg19UCSC Ensembl
Outerchr7:42745362..42759337hg19UCSC Ensembl
Cytoband7p14.1
Allele length
AssemblyAllele length
hg3812976
hg1912976
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12755681
SamplesHG03451
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3612974
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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