A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7864743



Internal ID13317334
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:91658468..91658484hg38UCSC Ensembl
Innerchr7:91658440..91658512hg38UCSC Ensembl
Outerchr7:91658424..91658528hg38UCSC Ensembl
chr7:91287783..91287799hg19UCSC Ensembl
Innerchr7:91287755..91287827hg19UCSC Ensembl
Outerchr7:91287739..91287843hg19UCSC Ensembl
chr7:91125719..91125735hg18UCSC Ensembl
Innerchr7:91125763..91125691hg18UCSC Ensembl
Outerchr7:91125675..91125779hg18UCSC Ensembl
Cytoband7q21.2
Allele length
AssemblyAllele length
hg3851
hg1951
hg1851
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3415647
Supporting Variants
SamplesNA12005
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7864743
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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