A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12766471



Internal ID3495132
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:49181693..49202364hg38UCSC Ensembl
Innerchr7:49181843..49202214hg38UCSC Ensembl
Outerchr7:49181543..49202514hg38UCSC Ensembl
chr7:49221289..49241960hg19UCSC Ensembl
Innerchr7:49221439..49241810hg19UCSC Ensembl
Outerchr7:49221139..49242110hg19UCSC Ensembl
Cytoband7p12.2
Allele length
AssemblyAllele length
hg3820672
hg1920672
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3613106
Supporting Variants
SamplesHG03103
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12766471
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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