A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6324904



Internal ID9302307
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:125096687..125100595hg38UCSC Ensembl
Outerchr8:125096650..125100645hg38UCSC Ensembl
Innerchr8:126108929..126112837hg19UCSC Ensembl
Outerchr8:126108892..126112887hg19UCSC Ensembl
Cytoband8q24.13
Allele length
AssemblyAllele length
hg383996
hg193996
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2670837
Supporting Variants
SamplesNA19704
Known GenesNSMCE2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6324904
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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