A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5940613



Internal ID9845063
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:100673293..100676299hg38UCSC Ensembl
Outerchr7:100672922..100676669hg38UCSC Ensembl
Innerchr7:100270916..100273922hg19UCSC Ensembl
Outerchr7:100270545..100274292hg19UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg383748
hg193748
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2664857
Supporting Variants
SamplesNA20509
Known GenesGNB2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5940613
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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