A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8695792



Internal ID14708252
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:44245528..44247126hg38UCSC Ensembl
Innerchr7:44246126..44246528hg38UCSC Ensembl
Outerchr7:44244528..44248126hg38UCSC Ensembl
chr7:44285127..44286725hg19UCSC Ensembl
Innerchr7:44285725..44286127hg19UCSC Ensembl
Outerchr7:44284127..44287725hg19UCSC Ensembl
chr7:44251652..44253250hg18UCSC Ensembl
Innerchr7:44252652..44252250hg18UCSC Ensembl
Outerchr7:44250652..44254250hg18UCSC Ensembl
Cytoband7p13
Allele length
AssemblyAllele length
hg381599
hg191599
hg181599
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3446315
Supporting Variants
SamplesNA19239
Known GenesCAMK2B
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8695792
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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