A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3613054



Internal ID6999952
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:47049860..47053219hg38UCSC Ensembl
Innerchr7:47049896..47053183hg38UCSC Ensembl
Outerchr7:47049824..47053255hg38UCSC Ensembl
chr7:47089458..47092817hg19UCSC Ensembl
Innerchr7:47089494..47092781hg19UCSC Ensembl
Outerchr7:47089422..47092853hg19UCSC Ensembl
Cytoband7p12.3
Allele length
AssemblyAllele length
hg383360
hg193360
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12758797, essv12758800, essv12758799, essv12758802, essv12758794, essv12758793, essv12758795, essv12758798, essv12758796, essv12758792, essv12758801
SamplesHG00096, NA12283, NA12287, HG00262, NA20533, HG04173, HG01334, HG01708, NA20801, HG02696, NA12890
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3613054
Frequency
Sample Size2504
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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