A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6246551



Internal ID9700279
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:143428546..143431152hg38UCSC Ensembl
Outerchr8:143428175..143431522hg38UCSC Ensembl
Innerchr8:144510716..144513322hg19UCSC Ensembl
Outerchr8:144510345..144513692hg19UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg383348
hg193348
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2668424
Supporting Variants
SamplesNA19451
Known GenesMAFA
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6246551
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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