A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3404636



Internal ID15251598
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:21584955..21584985hg38UCSC Ensembl
Innerchr7:21584950..21584987hg38UCSC Ensembl
Outerchr7:21584923..21585017hg38UCSC Ensembl
chr7:21624573..21624603hg19UCSC Ensembl
Innerchr7:21624568..21624605hg19UCSC Ensembl
Outerchr7:21624541..21624635hg19UCSC Ensembl
chr7:21591098..21591128hg18UCSC Ensembl
Innerchr7:21591130..21591093hg18UCSC Ensembl
Outerchr7:21591066..21591160hg18UCSC Ensembl
Cytoband7p15.3
Allele length
AssemblyAllele length
hg38271
hg19271
hg18271
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8676760
SamplesNA19239
Known GenesDNAH11
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3404636
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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