A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8695481



Internal ID15019247
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:123149762..123160260hg38UCSC Ensembl
Innerchr7:123150762..123159260hg38UCSC Ensembl
Outerchr7:123148762..123161260hg38UCSC Ensembl
chr7:122789816..122800314hg19UCSC Ensembl
Innerchr7:122790816..122799314hg19UCSC Ensembl
Outerchr7:122788816..122801314hg19UCSC Ensembl
chr7:122577052..122587550hg18UCSC Ensembl
Innerchr7:122578052..122586550hg18UCSC Ensembl
Outerchr7:122576052..122588550hg18UCSC Ensembl
Cytoband7q31.32
Allele length
AssemblyAllele length
hg3810499
hg1910499
hg1810499
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv3418184
Supporting Variants
SamplesNA19238
Known GenesSLC13A1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8695481
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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