A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3612479



Internal ID6999380
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:19994094..20009973hg38UCSC Ensembl
Innerchr7:19994095..20009972hg38UCSC Ensembl
Outerchr7:19994093..20009974hg38UCSC Ensembl
chr7:20033717..20049596hg19UCSC Ensembl
Innerchr7:20033718..20049595hg19UCSC Ensembl
Outerchr7:20033716..20049597hg19UCSC Ensembl
Cytoband7p21.1
Allele length
AssemblyAllele length
hg3815880
hg1915880
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12692868
SamplesHG01986
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3612479
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer