A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3614403



Internal ID7001297
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:104799649..104801368hg38UCSC Ensembl
Innerchr7:104799649..104801368hg38UCSC Ensembl
Outerchr7:104799535..104801501hg38UCSC Ensembl
chr7:104440096..104441815hg19UCSC Ensembl
Innerchr7:104440096..104441815hg19UCSC Ensembl
Outerchr7:104439982..104441948hg19UCSC Ensembl
Cytoband7q22.2
Allele length
AssemblyAllele length
hg381720
hg191720
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12913354, essv12913353
SamplesHG01198, HG01311
Known GenesLHFPL3, LHFPL3-AS1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3614403
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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