A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8671468



Internal ID14756563
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:89285684..89285886hg38UCSC Ensembl
Innerchr7:89285693..89285877hg38UCSC Ensembl
Outerchr7:89285675..89285895hg38UCSC Ensembl
chr7:88914998..88915200hg19UCSC Ensembl
Innerchr7:88915007..88915191hg19UCSC Ensembl
Outerchr7:88914989..88915209hg19UCSC Ensembl
chr7:88752934..88753136hg18UCSC Ensembl
Innerchr7:88752943..88753127hg18UCSC Ensembl
Outerchr7:88752925..88753145hg18UCSC Ensembl
Cytoband7q21.13
Allele length
AssemblyAllele length
hg38203
hg19203
hg18203
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3442756
Supporting Variants
SamplesNA19240
Known GenesZNF804B
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8671468
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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