A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5696776



Internal ID9911749
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:137843816..137846186hg38UCSC Ensembl
Outerchr7:137843779..137846236hg38UCSC Ensembl
Innerchr7:137528562..137530932hg19UCSC Ensembl
Outerchr7:137528525..137530982hg19UCSC Ensembl
Cytoband7q33
Allele length
AssemblyAllele length
hg382458
hg192458
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2667508
Supporting Variants
SamplesNA20808
Known GenesDGKI
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5696776
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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