A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3614366



Internal ID7001260
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12912188, essv12912190, essv12912189, essv12912191
SamplesNA12283, HG01757, NA20803, NA19818
Known GenesFBXL13
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3614366
Frequency
Sample Size2504
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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