A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12913412



Internal ID2098651
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:104861045..104864562hg38UCSC Ensembl
chr7:104501492..104505009hg19UCSC Ensembl
Cytoband7q22.3
Allele length
AssemblyAllele length
hg383518
hg193518
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3614408
Supporting Variants
SamplesHG01914
Known GenesLHFPL3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12913412
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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