A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3334238



Internal ID15181225
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:137654851..137654865hg38UCSC Ensembl
Innerchr7:137654826..137654890hg38UCSC Ensembl
Outerchr7:137654812..137654904hg38UCSC Ensembl
chr7:137339597..137339611hg19UCSC Ensembl
Innerchr7:137339572..137339636hg19UCSC Ensembl
Outerchr7:137339558..137339650hg19UCSC Ensembl
chr7:136990137..136990151hg18UCSC Ensembl
Innerchr7:136990176..136990112hg18UCSC Ensembl
Outerchr7:136990098..136990190hg18UCSC Ensembl
Cytoband7q33
Allele length
AssemblyAllele length
hg3853
hg1953
hg1853
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7864784
SamplesNA12005
Known GenesDGKI
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3334238
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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