A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12983109



Internal ID6314863
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:140413252..140416080hg38UCSC Ensembl
Innerchr7:140413260..140416072hg38UCSC Ensembl
Outerchr7:140413244..140416088hg38UCSC Ensembl
chr7:140113052..140115880hg19UCSC Ensembl
Innerchr7:140113060..140115872hg19UCSC Ensembl
Outerchr7:140113044..140115888hg19UCSC Ensembl
Cytoband7q34
Allele length
AssemblyAllele length
hg382829
hg192829
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3615232
Supporting Variants
SamplesNA19914
Known GenesRAB19
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12983109
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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