A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5706358



Internal ID9324900
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:87323031..87323121hg38UCSC Ensembl
Innerchr6:88032749..88032839hg19UCSC Ensembl
Cytoband6q15
Allele length
AssemblyAllele length
hg3891
hg1991
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2667119
Supporting Variants
SamplesNA18519
Known GenesGJB7, SMIM8
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5706358
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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