A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2678710



Internal ID9944815
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:127159735..127169618hg38UCSC Ensembl
Outerchr7:127159698..127169668hg38UCSC Ensembl
Innerchr7:126799789..126809672hg19UCSC Ensembl
Outerchr7:126799752..126809722hg19UCSC Ensembl
Cytoband7q31.33
Allele length
AssemblyAllele length
hg389971
hg199971
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5921673, essv6408593
SamplesNA12286, HG00158
Known GenesGRM8
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2678710
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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