A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9635358



Internal ID14912166
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:104412143..104412162hg38UCSC Ensembl
Innerchr7:104412139..104412166hg38UCSC Ensembl
Outerchr7:104412120..104412185hg38UCSC Ensembl
chr7:104052591..104052610hg19UCSC Ensembl
Innerchr7:104052587..104052614hg19UCSC Ensembl
Outerchr7:104052568..104052633hg19UCSC Ensembl
chr7:103839827..103839846hg18UCSC Ensembl
Innerchr7:103839850..103839823hg18UCSC Ensembl
Outerchr7:103839804..103839869hg18UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg38300
hg19300
hg18300
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3449372
Supporting Variants
SamplesNA19143
Known GenesLHFPL3
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv9635358
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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