A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12717060



Internal ID3013464
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3612693
Supporting Variants
SamplesHG02654
Known GenesCHN2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12717060
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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