A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3612464



Internal ID6999365
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:19189352..19199506hg38UCSC Ensembl
Innerchr7:19189352..19199506hg38UCSC Ensembl
Outerchr7:19188852..19200006hg38UCSC Ensembl
chr7:19228975..19239129hg19UCSC Ensembl
Innerchr7:19228975..19239129hg19UCSC Ensembl
Outerchr7:19228475..19239629hg19UCSC Ensembl
Cytoband7p21.1
Allele length
AssemblyAllele length
hg3810155
hg1910155
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12692797, essv12692795, essv12692794, essv12692791, essv12692796, essv12692789, essv12692792, essv12692793, essv12692790
SamplesNA18486, NA18988, NA19054, NA18986, NA18516, NA18953, NA19331, NA19334, HG03469
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3612464
Frequency
Sample Size2504
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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