A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12912191



Internal ID6654252
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:102955131..102956357hg38UCSC Ensembl
Innerchr7:102955165..102956324hg38UCSC Ensembl
Outerchr7:102955098..102956391hg38UCSC Ensembl
chr7:102595578..102596804hg19UCSC Ensembl
Innerchr7:102595612..102596771hg19UCSC Ensembl
Outerchr7:102595545..102596838hg19UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg381227
hg191227
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3614366
Supporting Variants
SamplesNA20803
Known GenesFBXL13
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12912191
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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