A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8695793



Internal ID14748866
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:44245828..44247226hg38UCSC Ensembl
Innerchr7:44246226..44246828hg38UCSC Ensembl
Outerchr7:44244828..44248226hg38UCSC Ensembl
chr7:44285427..44286825hg19UCSC Ensembl
Innerchr7:44285825..44286427hg19UCSC Ensembl
Outerchr7:44284427..44287825hg19UCSC Ensembl
chr7:44251952..44253350hg18UCSC Ensembl
Innerchr7:44252952..44252350hg18UCSC Ensembl
Outerchr7:44250952..44254350hg18UCSC Ensembl
Cytoband7p13
Allele length
AssemblyAllele length
hg381399
hg191399
hg181399
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3326999
Supporting Variants
SamplesNA19240
Known GenesCAMK2B
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8695793
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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