A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3614398



Internal ID7001292
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:104585075..104609634hg38UCSC Ensembl
Innerchr7:104585075..104609634hg38UCSC Ensembl
Outerchr7:104584575..104610134hg38UCSC Ensembl
chr7:104225522..104250081hg19UCSC Ensembl
Innerchr7:104225522..104250081hg19UCSC Ensembl
Outerchr7:104225022..104250581hg19UCSC Ensembl
Cytoband7q22.2
Allele length
AssemblyAllele length
hg3824560
hg1924560
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1315e214
Supporting Variantsessv12913312, essv12913313
SamplesHG03986, HG03755
Known GenesLHFPL3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3614398
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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