A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6122380



Internal ID9099783
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:83173477..83173966hg38UCSC Ensembl
Outerchr6:83173440..83174016hg38UCSC Ensembl
Innerchr6:83883196..83883685hg19UCSC Ensembl
Outerchr6:83883159..83883735hg19UCSC Ensembl
Cytoband6q14.1
Allele length
AssemblyAllele length
hg38577
hg19577
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2664853
Supporting Variants
SamplesNA19257
Known GenesPGM3
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6122380
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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