A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12913144



Internal ID5383965
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:103778381..103912633hg38UCSC Ensembl
chr7:103418828..103553080hg19UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg38134253
hg19134253
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3614383
Supporting Variants
SamplesNA18933
Known GenesRELN
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12913144
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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