A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8695648



Internal ID13381079
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:152401134..152416532hg38UCSC Ensembl
Innerchr7:152402134..152415532hg38UCSC Ensembl
Outerchr7:152400134..152417532hg38UCSC Ensembl
chr7:152098219..152113617hg19UCSC Ensembl
Innerchr7:152099219..152112617hg19UCSC Ensembl
Outerchr7:152097219..152114617hg19UCSC Ensembl
chr7:151729152..151744550hg18UCSC Ensembl
Innerchr7:151730152..151743550hg18UCSC Ensembl
Outerchr7:151728152..151745550hg18UCSC Ensembl
Cytoband7q36.1
Allele length
AssemblyAllele length
hg3815399
hg1915399
hg1815399
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv3350379
Supporting Variants
SamplesNA12892
Known GenesKMT2C
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8695648
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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