A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12913312



Internal ID4149419
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3614398
Supporting Variants
SamplesHG03755
Known GenesLHFPL3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12913312
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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