A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3374767



Internal ID15221742
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:107901932..107902043hg38UCSC Ensembl
Innerchr7:107901953..107902022hg38UCSC Ensembl
Outerchr7:107901911..107902064hg38UCSC Ensembl
chr7:107542377..107542488hg19UCSC Ensembl
Innerchr7:107542398..107542467hg19UCSC Ensembl
Outerchr7:107542356..107542509hg19UCSC Ensembl
chr7:107329613..107329724hg18UCSC Ensembl
Innerchr7:107329634..107329703hg18UCSC Ensembl
Outerchr7:107329592..107329745hg18UCSC Ensembl
Cytoband7q31.1
Allele length
AssemblyAllele length
hg38112
hg19112
hg18112
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8671400
SamplesNA19238
Known GenesDLD
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3374767
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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