A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6563112



Internal ID9564960
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:50311856..50315562hg38UCSC Ensembl
Outerchr8:50311485..50315932hg38UCSC Ensembl
Innerchr8:51224416..51228122hg19UCSC Ensembl
Outerchr8:51224045..51228492hg19UCSC Ensembl
Cytoband8q11.21
Allele length
AssemblyAllele length
hg384448
hg194448
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2657988
Supporting Variants
SamplesNA19108
Known GenesSNTG1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6563112
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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