A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3612693



Internal ID6999593
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:29413612..29552823hg38UCSC Ensembl
Innerchr7:29413612..29552823hg38UCSC Ensembl
Outerchr7:29413112..29553323hg38UCSC Ensembl
chr7:29453228..29592439hg19UCSC Ensembl
Innerchr7:29453228..29592439hg19UCSC Ensembl
Outerchr7:29452728..29592939hg19UCSC Ensembl
Cytoband7p14.3
Allele length
AssemblyAllele length
hg38139212
hg19139212
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12717060
SamplesHG02654
Known GenesCHN2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3612693
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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