A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8695639



Internal ID15054250
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:152272034..152290232hg38UCSC Ensembl
Innerchr7:152273034..152289232hg38UCSC Ensembl
Outerchr7:152271034..152291232hg38UCSC Ensembl
chr7:151969119..151987317hg19UCSC Ensembl
Innerchr7:151970119..151986317hg19UCSC Ensembl
Outerchr7:151968119..151988317hg19UCSC Ensembl
chr7:151600052..151618250hg18UCSC Ensembl
Innerchr7:151601052..151617250hg18UCSC Ensembl
Outerchr7:151599052..151619250hg18UCSC Ensembl
Cytoband7q36.1
Allele length
AssemblyAllele length
hg3818199
hg1918199
hg1818199
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv3383378
Supporting Variants
SamplesNA19239
Known GenesKMT2C
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8695639
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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