A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8695637



Internal ID13301467
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:152259034..152292532hg38UCSC Ensembl
Innerchr7:152260034..152291532hg38UCSC Ensembl
Outerchr7:152258034..152293532hg38UCSC Ensembl
chr7:151956119..151989617hg19UCSC Ensembl
Innerchr7:151957119..151988617hg19UCSC Ensembl
Outerchr7:151955119..151990617hg19UCSC Ensembl
chr7:151587052..151620550hg18UCSC Ensembl
Innerchr7:151588052..151619550hg18UCSC Ensembl
Outerchr7:151586052..151621550hg18UCSC Ensembl
Cytoband7q36.1
Allele length
AssemblyAllele length
hg3833499
hg1933499
hg1833499
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag0
Merged StatusS
Merged Variantsesv3410360
Supporting Variants
SamplesNA12878
Known GenesKMT2C
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8695637
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer